Links from Gene
Items: 1 to 20 of 8832
2.
rs1491522498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 17:75233377
(GRCh38)
17:73229472
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75233375:TTT:T
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00006/5
(GnomAD)
-=0.00058/14
(TOMMO)
- HGVS:
3.
rs1491482451 has merged into rs776931400 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:75230376
(GRCh38)
17:73226471
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75230362:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:75230362:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:75230362:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:75230362:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:75230362:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:75230362:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:75230362:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.75230376_75230377del, NC_000017.11:g.75230377del, NC_000017.11:g.75230377dup, NC_000017.11:g.75230376_75230377dup, NC_000017.11:g.75230375_75230377dup, NC_000017.11:g.75230374_75230377dup, NC_000017.11:g.75230370_75230377dup, NC_000017.10:g.73226471_73226472del, NC_000017.10:g.73226472del, NC_000017.10:g.73226472dup, NC_000017.10:g.73226471_73226472dup, NC_000017.10:g.73226470_73226472dup, NC_000017.10:g.73226469_73226472dup, NC_000017.10:g.73226465_73226472dup
4.
rs1491462737 has merged into rs71159451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:75203569
(GRCh38)
17:73199664
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75203556:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.75203569_75203579del, NC_000017.11:g.75203570_75203579del, NC_000017.11:g.75203571_75203579del, NC_000017.11:g.75203572_75203579del, NC_000017.11:g.75203573_75203579del, NC_000017.11:g.75203574_75203579del, NC_000017.11:g.75203575_75203579del, NC_000017.11:g.75203576_75203579del, NC_000017.11:g.75203577_75203579del, NC_000017.11:g.75203578_75203579del, NC_000017.11:g.75203579del, NC_000017.11:g.75203579dup, NC_000017.11:g.75203578_75203579dup, NC_000017.11:g.75203577_75203579dup, NC_000017.11:g.75203576_75203579dup, NC_000017.11:g.75203575_75203579dup, NC_000017.11:g.75203574_75203579dup, NC_000017.11:g.75203573_75203579dup, NC_000017.11:g.75203572_75203579dup, NC_000017.11:g.75203571_75203579dup, NC_000017.11:g.75203570_75203579dup, NC_000017.11:g.75203569_75203579dup, NC_000017.11:g.75203568_75203579dup, NC_000017.11:g.75203567_75203579dup, NC_000017.11:g.75203566_75203579dup, NC_000017.11:g.75203565_75203579dup, NC_000017.11:g.75203564_75203579dup, NC_000017.11:g.75203563_75203579dup, NC_000017.11:g.75203562_75203579dup, NC_000017.11:g.75203558_75203579dup, NC_000017.11:g.75203557_75203579dup, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203579_75203580insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.75203557_75203579A[28]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.75203557_75203579A[27]CAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.75203557_75203579A[25]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.75203557_75203579A[25]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.75203557_75203579A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.73199664_73199674del, NC_000017.10:g.73199665_73199674del, NC_000017.10:g.73199666_73199674del, NC_000017.10:g.73199667_73199674del, NC_000017.10:g.73199668_73199674del, NC_000017.10:g.73199669_73199674del, NC_000017.10:g.73199670_73199674del, NC_000017.10:g.73199671_73199674del, NC_000017.10:g.73199672_73199674del, NC_000017.10:g.73199673_73199674del, NC_000017.10:g.73199674del, NC_000017.10:g.73199674dup, NC_000017.10:g.73199673_73199674dup, NC_000017.10:g.73199672_73199674dup, NC_000017.10:g.73199671_73199674dup, NC_000017.10:g.73199670_73199674dup, NC_000017.10:g.73199669_73199674dup, NC_000017.10:g.73199668_73199674dup, NC_000017.10:g.73199667_73199674dup, NC_000017.10:g.73199666_73199674dup, NC_000017.10:g.73199665_73199674dup, NC_000017.10:g.73199664_73199674dup, NC_000017.10:g.73199663_73199674dup, NC_000017.10:g.73199662_73199674dup, NC_000017.10:g.73199661_73199674dup, NC_000017.10:g.73199660_73199674dup, NC_000017.10:g.73199659_73199674dup, NC_000017.10:g.73199658_73199674dup, NC_000017.10:g.73199657_73199674dup, NC_000017.10:g.73199653_73199674dup, NC_000017.10:g.73199652_73199674dup, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199674_73199675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.73199652_73199674A[28]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.73199652_73199674A[27]CAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.73199652_73199674A[25]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.73199652_73199674A[25]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.73199652_73199674A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
5.
rs1491405877 has merged into rs539810910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGCGCG>-,CG,CGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCG
[Show Flanks]
- Chromosome:
- 17:75212083
(GRCh38)
17:73208178
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75212081:GCGCGCG:G,NC_000017.11:75212081:GCGCGCG:GCG,NC_000017.11:75212081:GCGCGCG:GCGCG,NC_000017.11:75212081:GCGCGCG:GCGCGCGCG,NC_000017.11:75212081:GCGCGCG:GCGCGCGCGCG,NC_000017.11:75212081:GCGCGCG:GCGCGCGCGCGCG
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Clinical significance:
- uncertain-significance,benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0./0
(
ALFA)
-=0.03273/155
(1000Genomes)
GC=0.125/5
(GENOME_DK)
GC=0.16833/101
(NorthernSweden)
- HGVS:
NC_000017.11:g.75212083_75212088del, NC_000017.11:g.75212083CG[1], NC_000017.11:g.75212083CG[2], NC_000017.11:g.75212083CG[4], NC_000017.11:g.75212083CG[5], NC_000017.11:g.75212083CG[6], NC_000017.10:g.73208178_73208183del, NC_000017.10:g.73208178CG[1], NC_000017.10:g.73208178CG[2], NC_000017.10:g.73208178CG[4], NC_000017.10:g.73208178CG[5], NC_000017.10:g.73208178CG[6]
6.
rs1491396374 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 17:75212229
(GRCh38)
17:73208324
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75212228:GT:
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00013/10
(GnomAD)
- HGVS:
7.
rs1491390322 has merged into rs539810910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGCGCG>-,CG,CGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCG
[Show Flanks]
- Chromosome:
- 17:75212083
(GRCh38)
17:73208178
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75212081:GCGCGCG:G,NC_000017.11:75212081:GCGCGCG:GCG,NC_000017.11:75212081:GCGCGCG:GCGCG,NC_000017.11:75212081:GCGCGCG:GCGCGCGCG,NC_000017.11:75212081:GCGCGCG:GCGCGCGCGCG,NC_000017.11:75212081:GCGCGCG:GCGCGCGCGCGCG
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Clinical significance:
- uncertain-significance,benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0./0
(
ALFA)
-=0.03273/155
(1000Genomes)
GC=0.125/5
(GENOME_DK)
GC=0.16833/101
(NorthernSweden)
- HGVS:
NC_000017.11:g.75212083_75212088del, NC_000017.11:g.75212083CG[1], NC_000017.11:g.75212083CG[2], NC_000017.11:g.75212083CG[4], NC_000017.11:g.75212083CG[5], NC_000017.11:g.75212083CG[6], NC_000017.10:g.73208178_73208183del, NC_000017.10:g.73208178CG[1], NC_000017.10:g.73208178CG[2], NC_000017.10:g.73208178CG[4], NC_000017.10:g.73208178CG[5], NC_000017.10:g.73208178CG[6]
8.
rs1491361913 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTC
[Show Flanks]
- Chromosome:
- 17:75233384
(GRCh38)
17:73229480
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75233384::CTC
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CTC=0.0144/831
(GnomAD)
- HGVS:
9.
rs1491359948 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:75208440
(GRCh38)
17:73204535
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75208439:CA:
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02133/253
(
ALFA)
-=0.00273/75
(GnomAD)
-=0.0033/93
(TOMMO)
- HGVS:
10.
rs1491338120 has merged into rs10579016 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:75208446
(GRCh38)
17:73204541
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75208440:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
AAA=0.1607/805
(1000Genomes)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000017.11:g.75208446_75208462del, NC_000017.11:g.75208448_75208462del, NC_000017.11:g.75208452_75208462del, NC_000017.11:g.75208453_75208462del, NC_000017.11:g.75208454_75208462del, NC_000017.11:g.75208455_75208462del, NC_000017.11:g.75208456_75208462del, NC_000017.11:g.75208457_75208462del, NC_000017.11:g.75208458_75208462del, NC_000017.11:g.75208459_75208462del, NC_000017.11:g.75208460_75208462del, NC_000017.11:g.75208461_75208462del, NC_000017.11:g.75208462del, NC_000017.11:g.75208462dup, NC_000017.11:g.75208461_75208462dup, NC_000017.11:g.75208460_75208462dup, NC_000017.11:g.75208459_75208462dup, NC_000017.11:g.75208458_75208462dup, NC_000017.11:g.75208457_75208462dup, NC_000017.11:g.75208455_75208462dup, NC_000017.10:g.73204541_73204557del, NC_000017.10:g.73204543_73204557del, NC_000017.10:g.73204547_73204557del, NC_000017.10:g.73204548_73204557del, NC_000017.10:g.73204549_73204557del, NC_000017.10:g.73204550_73204557del, NC_000017.10:g.73204551_73204557del, NC_000017.10:g.73204552_73204557del, NC_000017.10:g.73204553_73204557del, NC_000017.10:g.73204554_73204557del, NC_000017.10:g.73204555_73204557del, NC_000017.10:g.73204556_73204557del, NC_000017.10:g.73204557del, NC_000017.10:g.73204557dup, NC_000017.10:g.73204556_73204557dup, NC_000017.10:g.73204555_73204557dup, NC_000017.10:g.73204554_73204557dup, NC_000017.10:g.73204553_73204557dup, NC_000017.10:g.73204552_73204557dup, NC_000017.10:g.73204550_73204557dup
11.
rs1491283212 has merged into rs746039097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 17:75233385
(GRCh38)
17:73229480
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75233383:TTT:T,NC_000017.11:75233383:TTT:TT
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
-=0.00028/16
(GnomAD)
-=0.00081/3
(TWINSUK)
-=0.00259/10
(ALSPAC)
- HGVS:
12.
rs1491271924 has merged into rs1487667368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 17:75212230
(GRCh38)
17:73208325
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75212229:TTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:75212229:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.000079/1
(TOMMO)
- HGVS:
13.
rs1491141951 has merged into rs555503834 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 17:75212099
(GRCh38)
17:73208194
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:75212087:GTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTG=0./0
(
ALFA)
-=0.02893/53
(Korea1K)
-=0.04377/733
(TOMMO)
- HGVS:
NC_000017.11:g.75212089TG[5], NC_000017.11:g.75212089TG[6], NC_000017.11:g.75212089TG[7], NC_000017.11:g.75212089TG[8], NC_000017.11:g.75212089TG[9], NC_000017.11:g.75212089TG[10], NC_000017.11:g.75212089TG[12], NC_000017.11:g.75212089TG[13], NC_000017.11:g.75212089TG[14], NC_000017.10:g.73208184TG[5], NC_000017.10:g.73208184TG[6], NC_000017.10:g.73208184TG[7], NC_000017.10:g.73208184TG[8], NC_000017.10:g.73208184TG[9], NC_000017.10:g.73208184TG[10], NC_000017.10:g.73208184TG[12], NC_000017.10:g.73208184TG[13], NC_000017.10:g.73208184TG[14]
14.
rs1491099446 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:75233376
(GRCh38)
17:73229472
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75233376::C
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.04509/734
(TOMMO)
C=0.08383/7891
(GnomAD)
- HGVS:
16.
rs1491044123 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTGCG
[Show Flanks]
- Chromosome:
- 17:75212071
(GRCh38)
17:73208167
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75212071:GTGTGCG:GTGTGCGTGTGCG
- Gene:
- NUP85 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGCGTGTGCG=0./0
(
ALFA)
- HGVS:
17.
rs1491003383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:75231540
(GRCh38)
17:73227635
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75231539:G:T
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1490901252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:75228654
(GRCh38)
17:73224749
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75228653:A:T
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490546346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:75235487
(GRCh38)
17:73231582
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75235486:T:C
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490476071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75225118
(GRCh38)
17:73221213
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75225117:C:T
- Gene:
- GGA3 (Varview), NUP85 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
- HGVS:
NC_000017.11:g.75225118C>T, NC_000017.10:g.73221213C>T, NM_024844.5:c.613C>T, NM_024844.4:c.613C>T, NM_024844.3:c.613C>T, XM_011524563.4:c.*503G>A, XM_017024388.2:c.*503G>A, NM_001303276.2:c.475C>T, NM_001303276.1:c.475C>T, XR_002958072.2:n.696C>T, XR_002958072.1:n.672C>T, XM_024450951.2:c.613C>T, XM_024450951.1:c.-367C>T, XM_047435678.1:c.*503G>A, XM_047435679.1:c.*503G>A, XM_047435680.1:c.*503G>A, XM_047435677.1:c.*503G>A, XM_047435682.1:c.*503G>A, XR_007065462.1:n.696C>T, XR_007065461.1:n.696C>T, XM_047436776.1:c.613C>T, XM_047436777.1:c.109C>T, XR_007065463.1:n.696C>T