Links from Gene
Items: 1 to 20 of 1000
1.
rs1491586627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TACA,TATACA,TATATACA,TATATATACA,TATATATATATACA,TATATATATATATACA,TATATATATATATATATATATATATATATATACA
[Show Flanks]
- Chromosome:
- 6:150671110
(GRCh38)
6:150992247
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150671110:A:ATACA,NC_000006.12:150671110:A:ATATACA,NC_000006.12:150671110:A:ATATATACA,NC_000006.12:150671110:A:ATATATATACA,NC_000006.12:150671110:A:ATATATATATATACA,NC_000006.12:150671110:A:ATATATATATATATACA,NC_000006.12:150671110:A:ATATATATATATATATATATATATATATATATACA
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATACA=0./0
(
ALFA)
ATATATATAC=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.150671111_150671112insTACA, NC_000006.12:g.150671111AT[2]ACA[1], NC_000006.12:g.150671111AT[3]ACA[1], NC_000006.12:g.150671111AT[4]ACA[1], NC_000006.12:g.150671111AT[6]ACA[1], NC_000006.12:g.150671111AT[7]ACA[1], NC_000006.12:g.150671111AT[16]ACA[1], NC_000006.11:g.150992247_150992248insTACA, NC_000006.11:g.150992247AT[2]ACA[1], NC_000006.11:g.150992247AT[3]ACA[1], NC_000006.11:g.150992247AT[4]ACA[1], NC_000006.11:g.150992247AT[6]ACA[1], NC_000006.11:g.150992247AT[7]ACA[1], NC_000006.11:g.150992247AT[16]ACA[1], NG_051299.1:g.76249_76250insTACA, NG_051299.1:g.76249AT[2]ACA[1], NG_051299.1:g.76249AT[3]ACA[1], NG_051299.1:g.76249AT[4]ACA[1], NG_051299.1:g.76249AT[6]ACA[1], NG_051299.1:g.76249AT[7]ACA[1], NG_051299.1:g.76249AT[16]ACA[1]
2.
rs1491584747 has merged into rs1161807615 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAAAA
[Show Flanks]
- Chromosome:
- 6:150810514
(GRCh38)
6:151131650
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150810512:AAAAA:A,NC_000006.12:150810512:AAAAA:AA,NC_000006.12:150810512:AAAAA:AAA,NC_000006.12:150810512:AAAAA:AAAAAA
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
-=0.02331/382
(TOMMO)
- HGVS:
NC_000006.12:g.150810514_150810517del, NC_000006.12:g.150810515_150810517del, NC_000006.12:g.150810516_150810517del, NC_000006.12:g.150810517dup, NC_000006.11:g.151131650_151131653del, NC_000006.11:g.151131651_151131653del, NC_000006.11:g.151131652_151131653del, NC_000006.11:g.151131653dup, NG_051299.1:g.215652_215655del, NG_051299.1:g.215653_215655del, NG_051299.1:g.215654_215655del, NG_051299.1:g.215655dup
3.
rs1491583940 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:150780136
(GRCh38)
6:151101273
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150780136::T
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000038/4
(GnomAD)
- HGVS:
5.
rs1491534735 has merged into rs35351890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:150611821
(GRCh38)
6:150932957
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150611811:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.4038/2022
(1000Genomes)
- HGVS:
NC_000006.12:g.150611821_150611827del, NC_000006.12:g.150611823_150611827del, NC_000006.12:g.150611824_150611827del, NC_000006.12:g.150611825_150611827del, NC_000006.12:g.150611826_150611827del, NC_000006.12:g.150611827del, NC_000006.12:g.150611827dup, NC_000006.12:g.150611826_150611827dup, NC_000006.12:g.150611825_150611827dup, NC_000006.12:g.150611824_150611827dup, NC_000006.12:g.150611823_150611827dup, NC_000006.12:g.150611822_150611827dup, NC_000006.12:g.150611821_150611827dup, NC_000006.12:g.150611820_150611827dup, NC_000006.12:g.150611819_150611827dup, NC_000006.12:g.150611818_150611827dup, NC_000006.12:g.150611816_150611827dup, NC_000006.12:g.150611827_150611828insAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.150932957_150932963del, NC_000006.11:g.150932959_150932963del, NC_000006.11:g.150932960_150932963del, NC_000006.11:g.150932961_150932963del, NC_000006.11:g.150932962_150932963del, NC_000006.11:g.150932963del, NC_000006.11:g.150932963dup, NC_000006.11:g.150932962_150932963dup, NC_000006.11:g.150932961_150932963dup, NC_000006.11:g.150932960_150932963dup, NC_000006.11:g.150932959_150932963dup, NC_000006.11:g.150932958_150932963dup, NC_000006.11:g.150932957_150932963dup, NC_000006.11:g.150932956_150932963dup, NC_000006.11:g.150932955_150932963dup, NC_000006.11:g.150932954_150932963dup, NC_000006.11:g.150932952_150932963dup, NC_000006.11:g.150932963_150932964insAAAAAAAAAAAAAAAAAAAA, NG_051299.1:g.16959_16965del, NG_051299.1:g.16961_16965del, NG_051299.1:g.16962_16965del, NG_051299.1:g.16963_16965del, NG_051299.1:g.16964_16965del, NG_051299.1:g.16965del, NG_051299.1:g.16965dup, NG_051299.1:g.16964_16965dup, NG_051299.1:g.16963_16965dup, NG_051299.1:g.16962_16965dup, NG_051299.1:g.16961_16965dup, NG_051299.1:g.16960_16965dup, NG_051299.1:g.16959_16965dup, NG_051299.1:g.16958_16965dup, NG_051299.1:g.16957_16965dup, NG_051299.1:g.16956_16965dup, NG_051299.1:g.16954_16965dup, NG_051299.1:g.16965_16966insAAAAAAAAAAAAAAAAAAAA
6.
rs1491532879 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 6:150806247
(GRCh38)
6:151127383
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150806246:TG:
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00236/28
(
ALFA)
-=0.00024/31
(GnomAD)
-=0.003717/62
(TOMMO)
- HGVS:
7.
rs1491530332 has merged into rs35289522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 6:150674630
(GRCh38)
6:150995766
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150674628:CTC:C,NC_000006.12:150674628:CTC:CTCTC,NC_000006.12:150674628:CTC:CTCTCTC,NC_000006.12:150674628:CTC:CTCTCTCTC,NC_000006.12:150674628:CTC:CTCTCTCTCTC,NC_000006.12:150674628:CTC:CTCTCTCTCTCTC,NC_000006.12:150674628:CTC:CTCTCTCTCTCTCTC
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTC=0./0
(
ALFA)
CT=0.0018/9
(1000Genomes)
-=0.02184/81
(TWINSUK)
-=0.02673/103
(ALSPAC)
- HGVS:
NC_000006.12:g.150674630_150674631del, NC_000006.12:g.150674630_150674631dup, NC_000006.12:g.150674630TC[3], NC_000006.12:g.150674630TC[4], NC_000006.12:g.150674630TC[5], NC_000006.12:g.150674630TC[6], NC_000006.12:g.150674630TC[7], NC_000006.11:g.150995766_150995767del, NC_000006.11:g.150995766_150995767dup, NC_000006.11:g.150995766TC[3], NC_000006.11:g.150995766TC[4], NC_000006.11:g.150995766TC[5], NC_000006.11:g.150995766TC[6], NC_000006.11:g.150995766TC[7], NG_051299.1:g.79768_79769del, NG_051299.1:g.79768_79769dup, NG_051299.1:g.79768TC[3], NG_051299.1:g.79768TC[4], NG_051299.1:g.79768TC[5], NG_051299.1:g.79768TC[6], NG_051299.1:g.79768TC[7]
9.
rs1491469265 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 6:150641899
(GRCh38)
6:150963035
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150641898:AG:
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/4
(
ALFA)
-=0.00109/2
(Korea1K)
- HGVS:
10.
rs1491427080 has merged into rs772671634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:150780150
(GRCh38)
6:151101286
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:150780137:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.150780150_150780153del, NC_000006.12:g.150780151_150780153del, NC_000006.12:g.150780152_150780153del, NC_000006.12:g.150780153del, NC_000006.12:g.150780153dup, NC_000006.12:g.150780152_150780153dup, NC_000006.12:g.150780151_150780153dup, NC_000006.12:g.150780150_150780153dup, NC_000006.12:g.150780146_150780153dup, NC_000006.11:g.151101286_151101289del, NC_000006.11:g.151101287_151101289del, NC_000006.11:g.151101288_151101289del, NC_000006.11:g.151101289del, NC_000006.11:g.151101289dup, NC_000006.11:g.151101288_151101289dup, NC_000006.11:g.151101287_151101289dup, NC_000006.11:g.151101286_151101289dup, NC_000006.11:g.151101282_151101289dup, NG_051299.1:g.185288_185291del, NG_051299.1:g.185289_185291del, NG_051299.1:g.185290_185291del, NG_051299.1:g.185291del, NG_051299.1:g.185291dup, NG_051299.1:g.185290_185291dup, NG_051299.1:g.185289_185291dup, NG_051299.1:g.185288_185291dup, NG_051299.1:g.185284_185291dup
11.
rs1491424938 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:150611811
(GRCh38)
6:150932947
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150611810:CA:
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491422487 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:150812069
(GRCh38)
6:151133206
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150812069:GGGG:GGGGG
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1491417584 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTG
[Show Flanks]
- Chromosome:
- 6:150806247
(GRCh38)
6:151127384
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150806247::TTG
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTG=0.000084/1
(
ALFA)
TTG=0.000008/1
(GnomAD)
- HGVS:
14.
rs1491406805 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 6:150612045
(GRCh38)
6:150933181
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150612044:TC:
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00028/4
(TOMMO)
-=0.00127/56
(GnomAD)
- HGVS:
16.
rs1491392296 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:150641876
(GRCh38)
6:150963012
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150641875:CA:
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00337/40
(
ALFA)
-=0.00046/7
(TOMMO)
- HGVS:
17.
rs1491392162 has merged into rs56768740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 6:150702570
(GRCh38)
6:151023706
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:150702557:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.150702558GT[6], NC_000006.12:g.150702558GT[7], NC_000006.12:g.150702558GT[8], NC_000006.12:g.150702558GT[9], NC_000006.12:g.150702558GT[10], NC_000006.12:g.150702558GT[11], NC_000006.12:g.150702558GT[12], NC_000006.12:g.150702558GT[13], NC_000006.12:g.150702558GT[14], NC_000006.12:g.150702558GT[15], NC_000006.12:g.150702558GT[16], NC_000006.12:g.150702558GT[18], NC_000006.12:g.150702558GT[19], NC_000006.12:g.150702558GT[20], NC_000006.12:g.150702558GT[21], NC_000006.12:g.150702558GT[22], NC_000006.12:g.150702558GT[23], NC_000006.12:g.150702558GT[24], NC_000006.12:g.150702558GT[25], NC_000006.12:g.150702558GT[26], NC_000006.12:g.150702558GT[27], NC_000006.12:g.150702558GT[28], NC_000006.12:g.150702558GT[29], NC_000006.12:g.150702558GT[30], NC_000006.12:g.150702558GT[31], NC_000006.11:g.151023694GT[6], NC_000006.11:g.151023694GT[7], NC_000006.11:g.151023694GT[8], NC_000006.11:g.151023694GT[9], NC_000006.11:g.151023694GT[10], NC_000006.11:g.151023694GT[11], NC_000006.11:g.151023694GT[12], NC_000006.11:g.151023694GT[13], NC_000006.11:g.151023694GT[14], NC_000006.11:g.151023694GT[15], NC_000006.11:g.151023694GT[16], NC_000006.11:g.151023694GT[18], NC_000006.11:g.151023694GT[19], NC_000006.11:g.151023694GT[20], NC_000006.11:g.151023694GT[21], NC_000006.11:g.151023694GT[22], NC_000006.11:g.151023694GT[23], NC_000006.11:g.151023694GT[24], NC_000006.11:g.151023694GT[25], NC_000006.11:g.151023694GT[26], NC_000006.11:g.151023694GT[27], NC_000006.11:g.151023694GT[28], NC_000006.11:g.151023694GT[29], NC_000006.11:g.151023694GT[30], NC_000006.11:g.151023694GT[31], NG_051299.1:g.107696GT[6], NG_051299.1:g.107696GT[7], NG_051299.1:g.107696GT[8], NG_051299.1:g.107696GT[9], NG_051299.1:g.107696GT[10], NG_051299.1:g.107696GT[11], NG_051299.1:g.107696GT[12], NG_051299.1:g.107696GT[13], NG_051299.1:g.107696GT[14], NG_051299.1:g.107696GT[15], NG_051299.1:g.107696GT[16], NG_051299.1:g.107696GT[18], NG_051299.1:g.107696GT[19], NG_051299.1:g.107696GT[20], NG_051299.1:g.107696GT[21], NG_051299.1:g.107696GT[22], NG_051299.1:g.107696GT[23], NG_051299.1:g.107696GT[24], NG_051299.1:g.107696GT[25], NG_051299.1:g.107696GT[26], NG_051299.1:g.107696GT[27], NG_051299.1:g.107696GT[28], NG_051299.1:g.107696GT[29], NG_051299.1:g.107696GT[30], NG_051299.1:g.107696GT[31]
18.
rs1491386034 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:150677285
(GRCh38)
6:150998421
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150677282:TATA:TA
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000164/18
(GnomAD)
- HGVS:
19.
rs1491384674 has merged into rs3072754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:150806841
(GRCh38)
6:151127977
(GRCh37)
- Canonical SPDI:
- NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:150806829:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLEKHG1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAA=0./0
(GENOME_DK)
-=0.0283/109
(ALSPAC)
- HGVS:
NC_000006.12:g.150806841_150806851del, NC_000006.12:g.150806842_150806851del, NC_000006.12:g.150806843_150806851del, NC_000006.12:g.150806844_150806851del, NC_000006.12:g.150806845_150806851del, NC_000006.12:g.150806847_150806851del, NC_000006.12:g.150806848_150806851del, NC_000006.12:g.150806849_150806851del, NC_000006.12:g.150806850_150806851del, NC_000006.12:g.150806851del, NC_000006.12:g.150806851dup, NC_000006.12:g.150806850_150806851dup, NC_000006.12:g.150806849_150806851dup, NC_000006.12:g.150806848_150806851dup, NC_000006.12:g.150806847_150806851dup, NC_000006.12:g.150806846_150806851dup, NC_000006.12:g.150806845_150806851dup, NC_000006.11:g.151127977_151127987del, NC_000006.11:g.151127978_151127987del, NC_000006.11:g.151127979_151127987del, NC_000006.11:g.151127980_151127987del, NC_000006.11:g.151127981_151127987del, NC_000006.11:g.151127983_151127987del, NC_000006.11:g.151127984_151127987del, NC_000006.11:g.151127985_151127987del, NC_000006.11:g.151127986_151127987del, NC_000006.11:g.151127987del, NC_000006.11:g.151127987dup, NC_000006.11:g.151127986_151127987dup, NC_000006.11:g.151127985_151127987dup, NC_000006.11:g.151127984_151127987dup, NC_000006.11:g.151127983_151127987dup, NC_000006.11:g.151127982_151127987dup, NC_000006.11:g.151127981_151127987dup, NG_051299.1:g.211979_211989del, NG_051299.1:g.211980_211989del, NG_051299.1:g.211981_211989del, NG_051299.1:g.211982_211989del, NG_051299.1:g.211983_211989del, NG_051299.1:g.211985_211989del, NG_051299.1:g.211986_211989del, NG_051299.1:g.211987_211989del, NG_051299.1:g.211988_211989del, NG_051299.1:g.211989del, NG_051299.1:g.211989dup, NG_051299.1:g.211988_211989dup, NG_051299.1:g.211987_211989dup, NG_051299.1:g.211986_211989dup, NG_051299.1:g.211985_211989dup, NG_051299.1:g.211984_211989dup, NG_051299.1:g.211983_211989dup