Name: rs35697922
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs35697922

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:22900400-22900416 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₅ / del(T)₄ / delTTT / delTT…
del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₄=0.0000 (0/6884, ALFA)
delTT=0.0000 (0/6884, ALFA)
delT=0.0000 (0/6884, ALFA) (+ 4 more)
dupT=0.0000 (0/6884, ALFA)
dupTT=0.0000 (0/6884, ALFA)
delT=0.2662 (1333/5008, 1000G)
delT=0.15 (6/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYFIP1 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	6884	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	4694	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	1482	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	54	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	1428	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	70	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	58	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	12	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	90	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	230	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	50	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	268	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6884	(T)₁₇=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	European	Sub	4694	(T)₁₇=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	1482	(T)₁₇=1.0000	del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Other	Sub	268	(T)₁₇=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	230	(T)₁₇=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	90	(T)₁₇=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Asian	Sub	70	(T)₁₇=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	50	(T)₁₇=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₇=0.7338	delT=0.2662
1000Genomes	African	Sub	1322	(T)₁₇=0.7201	delT=0.2799
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.7262	delT=0.2738
1000Genomes	Europe	Sub	1006	(T)₁₇=0.7992	delT=0.2008
1000Genomes	South Asian	Sub	978	(T)₁₇=0.775	delT=0.225
1000Genomes	American	Sub	694	(T)₁₇=0.618	delT=0.382
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₇=0.85	delT=0.15

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 15	NC_000015.10:g.22900412_22900416del
GRCh38.p14 chr 15	NC_000015.10:g.22900413_22900416del
GRCh38.p14 chr 15	NC_000015.10:g.22900414_22900416del
GRCh38.p14 chr 15	NC_000015.10:g.22900415_22900416del
GRCh38.p14 chr 15	NC_000015.10:g.22900416del
GRCh38.p14 chr 15	NC_000015.10:g.22900416dup
GRCh38.p14 chr 15	NC_000015.10:g.22900415_22900416dup
GRCh38.p14 chr 15	NC_000015.10:g.22900414_22900416dup
GRCh37.p13 chr 15	NC_000015.9:g.22972664_22972668del
GRCh37.p13 chr 15	NC_000015.9:g.22972665_22972668del
GRCh37.p13 chr 15	NC_000015.9:g.22972666_22972668del
GRCh37.p13 chr 15	NC_000015.9:g.22972667_22972668del
GRCh37.p13 chr 15	NC_000015.9:g.22972668del
GRCh37.p13 chr 15	NC_000015.9:g.22972668dup
GRCh37.p13 chr 15	NC_000015.9:g.22972667_22972668dup
GRCh37.p13 chr 15	NC_000015.9:g.22972666_22972668dup
CYFIP1 RefSeqGene	NG_054889.1:g.85503_85507del
CYFIP1 RefSeqGene	NG_054889.1:g.85504_85507del
CYFIP1 RefSeqGene	NG_054889.1:g.85505_85507del
CYFIP1 RefSeqGene	NG_054889.1:g.85506_85507del
CYFIP1 RefSeqGene	NG_054889.1:g.85507del
CYFIP1 RefSeqGene	NG_054889.1:g.85507dup
CYFIP1 RefSeqGene	NG_054889.1:g.85506_85507dup
CYFIP1 RefSeqGene	NG_054889.1:g.85505_85507dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794498dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794495_3794498del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794496_3794498del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794497_3794498del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794498del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794497_3794498dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794496_3794498dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794495_3794498dup

Gene: CYFIP1, cytoplasmic FMR1 interacting protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYFIP1 transcript variant 10	NM_001033028.3:c.1295+330… NM_001033028.3:c.1295+3302_1295+3306del	N/A	Intron Variant
CYFIP1 transcript variant 2	NM_001287810.4:c.2588+330… NM_001287810.4:c.2588+3302_2588+3306del	N/A	Intron Variant
CYFIP1 transcript variant 5	NM_001324119.2:c.2690+330… NM_001324119.2:c.2690+3302_2690+3306del	N/A	Intron Variant
CYFIP1 transcript variant 3	NM_001324120.2:c.2588+330… NM_001324120.2:c.2588+3302_2588+3306del	N/A	Intron Variant
CYFIP1 transcript variant 9	NM_001324122.3:c.908+3302… NM_001324122.3:c.908+3302_908+3306del	N/A	Intron Variant
CYFIP1 transcript variant 4	NM_001324123.3:c.2588+330… NM_001324123.3:c.2588+3302_2588+3306del	N/A	Intron Variant
CYFIP1 transcript variant 6	NM_001324124.3:c.2498+330… NM_001324124.3:c.2498+3302_2498+3306del	N/A	Intron Variant
CYFIP1 transcript variant 7	NM_001324125.3:c.2222+330… NM_001324125.3:c.2222+3302_2222+3306del	N/A	Intron Variant
CYFIP1 transcript variant 8	NM_001324126.3:c.2486+330… NM_001324126.3:c.2486+3302_2486+3306del	N/A	Intron Variant
CYFIP1 transcript variant 1	NM_014608.6:c.2588+3302_2… NM_014608.6:c.2588+3302_2588+3306del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(T)₁₇=	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT
GRCh38.p14 chr 15	NC_000015.10:g.22900400_22900416=	NC_000015.10:g.22900412_22900416del	NC_000015.10:g.22900413_22900416del	NC_000015.10:g.22900414_22900416del	NC_000015.10:g.22900415_22900416del	NC_000015.10:g.22900416del	NC_000015.10:g.22900416dup	NC_000015.10:g.22900415_22900416dup	NC_000015.10:g.22900414_22900416dup
GRCh37.p13 chr 15	NC_000015.9:g.22972652_22972668=	NC_000015.9:g.22972664_22972668del	NC_000015.9:g.22972665_22972668del	NC_000015.9:g.22972666_22972668del	NC_000015.9:g.22972667_22972668del	NC_000015.9:g.22972668del	NC_000015.9:g.22972668dup	NC_000015.9:g.22972667_22972668dup	NC_000015.9:g.22972666_22972668dup
CYFIP1 RefSeqGene	NG_054889.1:g.85491_85507=	NG_054889.1:g.85503_85507del	NG_054889.1:g.85504_85507del	NG_054889.1:g.85505_85507del	NG_054889.1:g.85506_85507del	NG_054889.1:g.85507del	NG_054889.1:g.85507dup	NG_054889.1:g.85506_85507dup	NG_054889.1:g.85505_85507dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3794498dup	NW_021160017.1:g.3794495_3794498del	NW_021160017.1:g.3794496_3794498del	NW_021160017.1:g.3794497_3794498del	NW_021160017.1:g.3794498del	NW_021160017.1:g.3794483_3794498=	NW_021160017.1:g.3794497_3794498dup	NW_021160017.1:g.3794496_3794498dup	NW_021160017.1:g.3794495_3794498dup
CYFIP1 transcript variant 2	NM_001033028.1:c.1295+3290=	NM_001033028.1:c.1295+3302_1295+3306del	NM_001033028.1:c.1295+3303_1295+3306del	NM_001033028.1:c.1295+3304_1295+3306del	NM_001033028.1:c.1295+3305_1295+3306del	NM_001033028.1:c.1295+3306del	NM_001033028.1:c.1295+3306dup	NM_001033028.1:c.1295+3305_1295+3306dup	NM_001033028.1:c.1295+3304_1295+3306dup
CYFIP1 transcript variant 10	NM_001033028.3:c.1295+3306=	NM_001033028.3:c.1295+3302_1295+3306del	NM_001033028.3:c.1295+3303_1295+3306del	NM_001033028.3:c.1295+3304_1295+3306del	NM_001033028.3:c.1295+3305_1295+3306del	NM_001033028.3:c.1295+3306del	NM_001033028.3:c.1295+3306dup	NM_001033028.3:c.1295+3305_1295+3306dup	NM_001033028.3:c.1295+3304_1295+3306dup
CYFIP1 transcript variant 2	NM_001287810.4:c.2588+3306=	NM_001287810.4:c.2588+3302_2588+3306del	NM_001287810.4:c.2588+3303_2588+3306del	NM_001287810.4:c.2588+3304_2588+3306del	NM_001287810.4:c.2588+3305_2588+3306del	NM_001287810.4:c.2588+3306del	NM_001287810.4:c.2588+3306dup	NM_001287810.4:c.2588+3305_2588+3306dup	NM_001287810.4:c.2588+3304_2588+3306dup
CYFIP1 transcript variant 5	NM_001324119.2:c.2690+3306=	NM_001324119.2:c.2690+3302_2690+3306del	NM_001324119.2:c.2690+3303_2690+3306del	NM_001324119.2:c.2690+3304_2690+3306del	NM_001324119.2:c.2690+3305_2690+3306del	NM_001324119.2:c.2690+3306del	NM_001324119.2:c.2690+3306dup	NM_001324119.2:c.2690+3305_2690+3306dup	NM_001324119.2:c.2690+3304_2690+3306dup
CYFIP1 transcript variant 3	NM_001324120.2:c.2588+3306=	NM_001324120.2:c.2588+3302_2588+3306del	NM_001324120.2:c.2588+3303_2588+3306del	NM_001324120.2:c.2588+3304_2588+3306del	NM_001324120.2:c.2588+3305_2588+3306del	NM_001324120.2:c.2588+3306del	NM_001324120.2:c.2588+3306dup	NM_001324120.2:c.2588+3305_2588+3306dup	NM_001324120.2:c.2588+3304_2588+3306dup
CYFIP1 transcript variant 9	NM_001324122.3:c.908+3306=	NM_001324122.3:c.908+3302_908+3306del	NM_001324122.3:c.908+3303_908+3306del	NM_001324122.3:c.908+3304_908+3306del	NM_001324122.3:c.908+3305_908+3306del	NM_001324122.3:c.908+3306del	NM_001324122.3:c.908+3306dup	NM_001324122.3:c.908+3305_908+3306dup	NM_001324122.3:c.908+3304_908+3306dup
CYFIP1 transcript variant 4	NM_001324123.3:c.2588+3306=	NM_001324123.3:c.2588+3302_2588+3306del	NM_001324123.3:c.2588+3303_2588+3306del	NM_001324123.3:c.2588+3304_2588+3306del	NM_001324123.3:c.2588+3305_2588+3306del	NM_001324123.3:c.2588+3306del	NM_001324123.3:c.2588+3306dup	NM_001324123.3:c.2588+3305_2588+3306dup	NM_001324123.3:c.2588+3304_2588+3306dup
CYFIP1 transcript variant 6	NM_001324124.3:c.2498+3306=	NM_001324124.3:c.2498+3302_2498+3306del	NM_001324124.3:c.2498+3303_2498+3306del	NM_001324124.3:c.2498+3304_2498+3306del	NM_001324124.3:c.2498+3305_2498+3306del	NM_001324124.3:c.2498+3306del	NM_001324124.3:c.2498+3306dup	NM_001324124.3:c.2498+3305_2498+3306dup	NM_001324124.3:c.2498+3304_2498+3306dup
CYFIP1 transcript variant 7	NM_001324125.3:c.2222+3306=	NM_001324125.3:c.2222+3302_2222+3306del	NM_001324125.3:c.2222+3303_2222+3306del	NM_001324125.3:c.2222+3304_2222+3306del	NM_001324125.3:c.2222+3305_2222+3306del	NM_001324125.3:c.2222+3306del	NM_001324125.3:c.2222+3306dup	NM_001324125.3:c.2222+3305_2222+3306dup	NM_001324125.3:c.2222+3304_2222+3306dup
CYFIP1 transcript variant 8	NM_001324126.3:c.2486+3306=	NM_001324126.3:c.2486+3302_2486+3306del	NM_001324126.3:c.2486+3303_2486+3306del	NM_001324126.3:c.2486+3304_2486+3306del	NM_001324126.3:c.2486+3305_2486+3306del	NM_001324126.3:c.2486+3306del	NM_001324126.3:c.2486+3306dup	NM_001324126.3:c.2486+3305_2486+3306dup	NM_001324126.3:c.2486+3304_2486+3306dup
CYFIP1 transcript variant 1	NM_014608.2:c.2588+3290=	NM_014608.2:c.2588+3302_2588+3306del	NM_014608.2:c.2588+3303_2588+3306del	NM_014608.2:c.2588+3304_2588+3306del	NM_014608.2:c.2588+3305_2588+3306del	NM_014608.2:c.2588+3306del	NM_014608.2:c.2588+3306dup	NM_014608.2:c.2588+3305_2588+3306dup	NM_014608.2:c.2588+3304_2588+3306dup
CYFIP1 transcript variant 1	NM_014608.6:c.2588+3306=	NM_014608.6:c.2588+3302_2588+3306del	NM_014608.6:c.2588+3303_2588+3306del	NM_014608.6:c.2588+3304_2588+3306del	NM_014608.6:c.2588+3305_2588+3306del	NM_014608.6:c.2588+3306del	NM_014608.6:c.2588+3306dup	NM_014608.6:c.2588+3305_2588+3306dup	NM_014608.6:c.2588+3304_2588+3306dup
CYFIP1 transcript variant X1	XM_005272542.1:c.2672+3290=	XM_005272542.1:c.2672+3302_2672+3306del	XM_005272542.1:c.2672+3303_2672+3306del	XM_005272542.1:c.2672+3304_2672+3306del	XM_005272542.1:c.2672+3305_2672+3306del	XM_005272542.1:c.2672+3306del	XM_005272542.1:c.2672+3306dup	XM_005272542.1:c.2672+3305_2672+3306dup	XM_005272542.1:c.2672+3304_2672+3306dup
CYFIP1 transcript variant X2	XM_005272543.1:c.2588+3290=	XM_005272543.1:c.2588+3302_2588+3306del	XM_005272543.1:c.2588+3303_2588+3306del	XM_005272543.1:c.2588+3304_2588+3306del	XM_005272543.1:c.2588+3305_2588+3306del	XM_005272543.1:c.2588+3306del	XM_005272543.1:c.2588+3306dup	XM_005272543.1:c.2588+3305_2588+3306dup	XM_005272543.1:c.2588+3304_2588+3306dup
CYFIP1 transcript variant X3	XM_005272544.1:c.2588+3290=	XM_005272544.1:c.2588+3302_2588+3306del	XM_005272544.1:c.2588+3303_2588+3306del	XM_005272544.1:c.2588+3304_2588+3306del	XM_005272544.1:c.2588+3305_2588+3306del	XM_005272544.1:c.2588+3306del	XM_005272544.1:c.2588+3306dup	XM_005272544.1:c.2588+3305_2588+3306dup	XM_005272544.1:c.2588+3304_2588+3306dup
CYFIP1 transcript variant X4	XM_005272545.1:c.2582+3290=	XM_005272545.1:c.2582+3302_2582+3306del	XM_005272545.1:c.2582+3303_2582+3306del	XM_005272545.1:c.2582+3304_2582+3306del	XM_005272545.1:c.2582+3305_2582+3306del	XM_005272545.1:c.2582+3306del	XM_005272545.1:c.2582+3306dup	XM_005272545.1:c.2582+3305_2582+3306dup	XM_005272545.1:c.2582+3304_2582+3306dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

44 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40580903	Dec 03, 2013 (138)
2	HUMANGENOME_JCVI	ss95652741	Dec 05, 2013 (138)
3	GMI	ss289245772	May 04, 2012 (137)
4	1000GENOMES	ss1374635313	Aug 21, 2014 (142)
5	EVA_GENOME_DK	ss1574828873	Apr 01, 2015 (144)
6	MCHAISSO	ss3065577175	Nov 08, 2017 (151)
7	URBANLAB	ss3650305608	Oct 12, 2018 (152)
8	EVA_DECODE	ss3697505406	Jul 13, 2019 (153)
9	EVA_DECODE	ss3697505407	Jul 13, 2019 (153)
10	EVA_DECODE	ss3697505408	Jul 13, 2019 (153)
11	EVA_DECODE	ss3697505409	Jul 13, 2019 (153)
12	EVA_DECODE	ss3697505410	Jul 13, 2019 (153)
13	PACBIO	ss3787787851	Jul 13, 2019 (153)
14	PACBIO	ss3787787852	Jul 13, 2019 (153)
15	PACBIO	ss3792808531	Jul 13, 2019 (153)
16	PACBIO	ss3797692948	Jul 13, 2019 (153)
17	EVA	ss3834134375	Apr 27, 2020 (154)
18	KOGIC	ss3975776943	Apr 27, 2020 (154)
19	KOGIC	ss3975776944	Apr 27, 2020 (154)
20	KOGIC	ss3975776945	Apr 27, 2020 (154)
21	KOGIC	ss3975776946	Apr 27, 2020 (154)
22	GNOMAD	ss4285272177	Apr 27, 2021 (155)
23	GNOMAD	ss4285272178	Apr 27, 2021 (155)
24	GNOMAD	ss4285272179	Apr 27, 2021 (155)
25	GNOMAD	ss4285272180	Apr 27, 2021 (155)
26	GNOMAD	ss4285272181	Apr 27, 2021 (155)
27	GNOMAD	ss4285272182	Apr 27, 2021 (155)
28	GNOMAD	ss4285272183	Apr 27, 2021 (155)
29	GNOMAD	ss4285272184	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5215208440	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5215208441	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5215208442	Apr 27, 2021 (155)
33	TOMMO_GENOMICS	ss5215208443	Apr 27, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5297711557	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5297711558	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5297711559	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5491551334	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5491551335	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5491551336	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5491551337	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5768736582	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5768736583	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5768736584	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5768736586	Oct 16, 2022 (156)
45	1000Genomes	NC_000015.9 - 22972652	Oct 12, 2018 (152)
46	The Danish reference pan genome	NC_000015.9 - 22972652	Apr 27, 2020 (154)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463162525 (NC_000015.10:22900399::T 2232/124298) Row 463162526 (NC_000015.10:22900399::TT 28/124310) Row 463162527 (NC_000015.10:22900399::TTT 1/124312)...	-	Apr 27, 2021 (155)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 32154944 (NC_000015.10:22900402::T 118/1830) Row 32154945 (NC_000015.10:22900401:T: 474/1830) Row 32154946 (NC_000015.10:22900400:TT: 15/1830)...	-	Apr 27, 2020 (154)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 32154944 (NC_000015.10:22900402::T 118/1830) Row 32154945 (NC_000015.10:22900401:T: 474/1830) Row 32154946 (NC_000015.10:22900400:TT: 15/1830)...	-	Apr 27, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 32154944 (NC_000015.10:22900402::T 118/1830) Row 32154945 (NC_000015.10:22900401:T: 474/1830) Row 32154946 (NC_000015.10:22900400:TT: 15/1830)...	-	Apr 27, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 32154944 (NC_000015.10:22900402::T 118/1830) Row 32154945 (NC_000015.10:22900401:T: 474/1830) Row 32154946 (NC_000015.10:22900400:TT: 15/1830)...	-	Apr 27, 2020 (154)
59	8.3KJPN Submission ignored due to conflicting rows: Row 73177747 (NC_000015.9:22972651:A: 3289/16662) Row 73177748 (NC_000015.9:22972651::A 931/16662) Row 73177749 (NC_000015.9:22972651:AA: 2/16662)...	-	Apr 27, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 73177747 (NC_000015.9:22972651:A: 3289/16662) Row 73177748 (NC_000015.9:22972651::A 931/16662) Row 73177749 (NC_000015.9:22972651:AA: 2/16662)...	-	Apr 27, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 73177747 (NC_000015.9:22972651:A: 3289/16662) Row 73177748 (NC_000015.9:22972651::A 931/16662) Row 73177749 (NC_000015.9:22972651:AA: 2/16662)...	-	Apr 27, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 73177747 (NC_000015.9:22972651:A: 3289/16662) Row 73177748 (NC_000015.9:22972651::A 931/16662) Row 73177749 (NC_000015.9:22972651:AA: 2/16662)...	-	Apr 27, 2021 (155)
63	14KJPN Submission ignored due to conflicting rows: Row 102573686 (NC_000015.10:22900399:T: 5769/28254) Row 102573687 (NC_000015.10:22900399::T 1702/28254) Row 102573688 (NC_000015.10:22900399:TT: 2/28254)...	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 102573686 (NC_000015.10:22900399:T: 5769/28254) Row 102573687 (NC_000015.10:22900399::T 1702/28254) Row 102573688 (NC_000015.10:22900399:TT: 2/28254)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 102573686 (NC_000015.10:22900399:T: 5769/28254) Row 102573687 (NC_000015.10:22900399::T 1702/28254) Row 102573688 (NC_000015.10:22900399:TT: 2/28254)...	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 102573686 (NC_000015.10:22900399:T: 5769/28254) Row 102573687 (NC_000015.10:22900399::T 1702/28254) Row 102573688 (NC_000015.10:22900399:TT: 2/28254)...	-	Oct 16, 2022 (156)
67	ALFA	NC_000015.10 - 22900400	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs79191825	May 11, 2012 (137)
rs200781803	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4285272184	NC_000015.10:22900399:TTTTT:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3697505406, ss4285272183	NC_000015.10:22900399:TTTT:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
1921946337	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3975776946, ss4285272182	NC_000015.10:22900399:TTT:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3697505407	NC_000015.10:22900400:TTT:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3787787852, ss5215208442	NC_000015.9:22972651:AA:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3065577175, ss4285272181, ss5297711559, ss5491551335, ss5768736584	NC_000015.10:22900399:TT:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1921946337	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3975776945	NC_000015.10:22900400:TT:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3697505408	NC_000015.10:22900401:TT:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss289245772	NC_000015.8:20524092:A:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
65698816, 476399, ss1374635313, ss1574828873, ss3787787851, ss3792808531, ss3797692948, ss3834134375, ss5215208440	NC_000015.9:22972651:A:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3650305608, ss4285272180, ss5297711557, ss5491551334, ss5768736582	NC_000015.10:22900399:T:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1921946337	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3975776944	NC_000015.10:22900401:T:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3697505409	NC_000015.10:22900402:T:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss95652741	NT_078094.2:326473:A:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss40580903	NT_078094.2:326474:A:	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5215208441	NC_000015.9:22972651::A	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4285272177, ss5297711558, ss5491551336, ss5768736583	NC_000015.10:22900399::T	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1921946337	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3975776943	NC_000015.10:22900402::T	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3697505410	NC_000015.10:22900403::T	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5215208443	NC_000015.9:22972651::AA	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4285272178, ss5491551337, ss5768736586	NC_000015.10:22900399::TT	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1921946337	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4285272179	NC_000015.10:22900399::TTT	NC_000015.10:22900399:TTTTTTTTTTTT… NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs35697922

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35697922