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dbSNP Short Genetic Variations

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.

rs1486644188

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:106868577 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000008 (2/251364, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PIK3CG : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251364 T=0.999992 A=0.000008
gnomAD - Exomes European Sub 135306 T=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49006 T=1.00000 A=0.00000
gnomAD - Exomes American Sub 34590 T=0.99994 A=0.00006
gnomAD - Exomes African Sub 16244 T=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 T=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 T=1.0000 A=0.0000
Help

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 7 NC_000007.14:g.106868577T>A
GRCh38.p14 chr 7 NC_000007.14:g.106868577T>C
GRCh38.p14 chr 7 NC_000007.14:g.106868577T>G
GRCh37.p13 chr 7 NC_000007.13:g.106509022T>A
GRCh37.p13 chr 7 NC_000007.13:g.106509022T>C
GRCh37.p13 chr 7 NC_000007.13:g.106509022T>G
PIK3CG RefSeqGene NG_050579.1:g.8300T>A
PIK3CG RefSeqGene NG_050579.1:g.8300T>C
PIK3CG RefSeqGene NG_050579.1:g.8300T>G
Gene: PIK3CG, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PIK3CG transcript variant 1 NM_002649.3:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_002640.2:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant 1 NM_002649.3:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_002640.2:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant 1 NM_002649.3:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_002640.2:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant 2 NM_001282426.2:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269355.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant 2 NM_001282426.2:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269355.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant 2 NM_001282426.2:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269355.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant 3 NM_001282427.2:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269356.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant 3 NM_001282427.2:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269356.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant 3 NM_001282427.2:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269356.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant X1 XM_005250443.4:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X1 XP_005250500.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant X1 XM_005250443.4:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X1 XP_005250500.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant X1 XM_005250443.4:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X1 XP_005250500.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant X2 XM_017012328.2:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X2 XP_016867817.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant X2 XM_017012328.2:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X2 XP_016867817.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant X2 XM_017012328.2:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X2 XP_016867817.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant X3 XM_011516316.2:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_011514618.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant X3 XM_011516316.2:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_011514618.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant X3 XM_011516316.2:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_011514618.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant X4 XM_047420479.1:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_047276435.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant X4 XM_047420479.1:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_047276435.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant X4 XM_047420479.1:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_047276435.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant X5 XM_011516317.2:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_011514619.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant X5 XM_011516317.2:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_011514619.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant X5 XM_011516317.2:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_011514619.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant X6 XM_047420480.1:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_047276436.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant X6 XM_047420480.1:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_047276436.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant X6 XM_047420480.1:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_047276436.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
PIK3CG transcript variant X7 XM_047420481.1:c.1016T>A L [CTT] > H [CAT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X5 XP_047276437.1:p.Leu339His L (Leu) > H (His) Missense Variant
PIK3CG transcript variant X7 XM_047420481.1:c.1016T>C L [CTT] > P [CCT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X5 XP_047276437.1:p.Leu339Pro L (Leu) > P (Pro) Missense Variant
PIK3CG transcript variant X7 XM_047420481.1:c.1016T>G L [CTT] > R [CGT] Coding Sequence Variant
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X5 XP_047276437.1:p.Leu339Arg L (Leu) > R (Arg) Missense Variant
Help

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
Help

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= A C G
GRCh38.p14 chr 7 NC_000007.14:g.106868577= NC_000007.14:g.106868577T>A NC_000007.14:g.106868577T>C NC_000007.14:g.106868577T>G
GRCh37.p13 chr 7 NC_000007.13:g.106509022= NC_000007.13:g.106509022T>A NC_000007.13:g.106509022T>C NC_000007.13:g.106509022T>G
PIK3CG RefSeqGene NG_050579.1:g.8300= NG_050579.1:g.8300T>A NG_050579.1:g.8300T>C NG_050579.1:g.8300T>G
PIK3CG transcript variant 1 NM_002649.3:c.1016= NM_002649.3:c.1016T>A NM_002649.3:c.1016T>C NM_002649.3:c.1016T>G
PIK3CG transcript NM_002649.2:c.1016= NM_002649.2:c.1016T>A NM_002649.2:c.1016T>C NM_002649.2:c.1016T>G
PIK3CG transcript variant 2 NM_001282426.2:c.1016= NM_001282426.2:c.1016T>A NM_001282426.2:c.1016T>C NM_001282426.2:c.1016T>G
PIK3CG transcript variant 2 NM_001282426.1:c.1016= NM_001282426.1:c.1016T>A NM_001282426.1:c.1016T>C NM_001282426.1:c.1016T>G
PIK3CG transcript variant 3 NM_001282427.2:c.1016= NM_001282427.2:c.1016T>A NM_001282427.2:c.1016T>C NM_001282427.2:c.1016T>G
PIK3CG transcript variant 3 NM_001282427.1:c.1016= NM_001282427.1:c.1016T>A NM_001282427.1:c.1016T>C NM_001282427.1:c.1016T>G
PIK3CG transcript variant X1 XM_005250443.4:c.1016= XM_005250443.4:c.1016T>A XM_005250443.4:c.1016T>C XM_005250443.4:c.1016T>G
PIK3CG transcript variant X1 XM_005250443.3:c.1016= XM_005250443.3:c.1016T>A XM_005250443.3:c.1016T>C XM_005250443.3:c.1016T>G
PIK3CG transcript variant X1 XM_005250443.2:c.1016= XM_005250443.2:c.1016T>A XM_005250443.2:c.1016T>C XM_005250443.2:c.1016T>G
PIK3CG transcript variant X3 XM_005250443.1:c.1016= XM_005250443.1:c.1016T>A XM_005250443.1:c.1016T>C XM_005250443.1:c.1016T>G
PIK3CG transcript variant X2 XM_017012328.2:c.1016= XM_017012328.2:c.1016T>A XM_017012328.2:c.1016T>C XM_017012328.2:c.1016T>G
PIK3CG transcript variant X2 XM_017012328.1:c.1016= XM_017012328.1:c.1016T>A XM_017012328.1:c.1016T>C XM_017012328.1:c.1016T>G
PIK3CG transcript variant X3 XM_011516316.2:c.1016= XM_011516316.2:c.1016T>A XM_011516316.2:c.1016T>C XM_011516316.2:c.1016T>G
PIK3CG transcript variant X3 XM_011516316.1:c.1016= XM_011516316.1:c.1016T>A XM_011516316.1:c.1016T>C XM_011516316.1:c.1016T>G
PIK3CG transcript variant X5 XM_011516317.2:c.1016= XM_011516317.2:c.1016T>A XM_011516317.2:c.1016T>C XM_011516317.2:c.1016T>G
PIK3CG transcript variant X4 XM_011516317.1:c.1016= XM_011516317.1:c.1016T>A XM_011516317.1:c.1016T>C XM_011516317.1:c.1016T>G
PIK3CG transcript variant X4 XM_047420479.1:c.1016= XM_047420479.1:c.1016T>A XM_047420479.1:c.1016T>C XM_047420479.1:c.1016T>G
PIK3CG transcript variant X6 XM_047420480.1:c.1016= XM_047420480.1:c.1016T>A XM_047420480.1:c.1016T>C XM_047420480.1:c.1016T>G
PIK3CG transcript variant X7 XM_047420481.1:c.1016= XM_047420481.1:c.1016T>A XM_047420481.1:c.1016T>C XM_047420481.1:c.1016T>G
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_002640.2:p.Leu339= NP_002640.2:p.Leu339His NP_002640.2:p.Leu339Pro NP_002640.2:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269355.1:p.Leu339= NP_001269355.1:p.Leu339His NP_001269355.1:p.Leu339Pro NP_001269355.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform NP_001269356.1:p.Leu339= NP_001269356.1:p.Leu339His NP_001269356.1:p.Leu339Pro NP_001269356.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X1 XP_005250500.1:p.Leu339= XP_005250500.1:p.Leu339His XP_005250500.1:p.Leu339Pro XP_005250500.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X2 XP_016867817.1:p.Leu339= XP_016867817.1:p.Leu339His XP_016867817.1:p.Leu339Pro XP_016867817.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_011514618.1:p.Leu339= XP_011514618.1:p.Leu339His XP_011514618.1:p.Leu339Pro XP_011514618.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_011514619.1:p.Leu339= XP_011514619.1:p.Leu339His XP_011514619.1:p.Leu339Pro XP_011514619.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X3 XP_047276435.1:p.Leu339= XP_047276435.1:p.Leu339His XP_047276435.1:p.Leu339Pro XP_047276435.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X4 XP_047276436.1:p.Leu339= XP_047276436.1:p.Leu339His XP_047276436.1:p.Leu339Pro XP_047276436.1:p.Leu339Arg
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform isoform X5 XP_047276437.1:p.Leu339= XP_047276437.1:p.Leu339His XP_047276437.1:p.Leu339Pro XP_047276437.1:p.Leu339Arg
Help

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#.

2 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2736688467 Nov 08, 2017 (151)
2 EVA ss5935878579 Oct 13, 2022 (156)
3 gnomAD - Exomes NC_000007.13 - 106509022 Jul 13, 2019 (153)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
5850553, ss2736688467, ss5935878579 NC_000007.13:106509021:T:A NC_000007.14:106868576:T:A (self)
ss5935878579 NC_000007.13:106509021:T:C NC_000007.14:106868576:T:C
ss5935878579 NC_000007.13:106509021:T:G NC_000007.14:106868576:T:G
Help

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

No publications for rs1486644188

Help

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.

Software version is: 2.0.1.post820+afb47a3d