Links from Gene
Items: 1 to 20 of 21544
2.
rs1491569378 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:128005669
(GRCh38)
2:128763243
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128005667:ACA:A
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491511785 has merged into rs36038328 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:127977351
(GRCh38)
2:128734925
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127977335:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.382/1913
(1000Genomes)
- HGVS:
NC_000002.12:g.127977351_127977353del, NC_000002.12:g.127977352_127977353del, NC_000002.12:g.127977353del, NC_000002.12:g.127977353dup, NC_000002.12:g.127977352_127977353dup, NC_000002.12:g.127977351_127977353dup, NC_000002.12:g.127977350_127977353dup, NC_000002.12:g.127977349_127977353dup, NC_000002.12:g.127977348_127977353dup, NC_000002.12:g.127977347_127977353dup, NC_000002.12:g.127977346_127977353dup, NC_000002.12:g.127977344_127977353dup, NC_000002.12:g.127977339_127977353dup, NC_000002.12:g.127977353_127977354insAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.128734925_128734927del, NC_000002.11:g.128734926_128734927del, NC_000002.11:g.128734927del, NC_000002.11:g.128734927dup, NC_000002.11:g.128734926_128734927dup, NC_000002.11:g.128734925_128734927dup, NC_000002.11:g.128734924_128734927dup, NC_000002.11:g.128734923_128734927dup, NC_000002.11:g.128734922_128734927dup, NC_000002.11:g.128734921_128734927dup, NC_000002.11:g.128734920_128734927dup, NC_000002.11:g.128734918_128734927dup, NC_000002.11:g.128734913_128734927dup, NC_000002.11:g.128734927_128734928insAAAAAAAAAAAAAAAAAAAA
4.
rs1491507539 has merged into rs1491251653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGAGTGTGTGTGAGTGTGTGTGT,GTGTGAGTGTGTGTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGAGTGTGTGTGT,GTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 2:127947760
(GRCh38)
2:128705334
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127947754:TGTGTGTGT:TGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGAGTGTGTGTGAGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGAGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGTGTGTGAGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGT=0./0
(
ALFA)
TGTGTGTGTGTGTGTGTGTGAG=0.00012/2
(TOMMO)
- HGVS:
NC_000002.12:g.127947756GT[2], NC_000002.12:g.127947756GT[3], NC_000002.12:g.127947755_127947763TG[5]AGTGTGTGTG[2]T[1], NC_000002.12:g.127947755_127947763TG[5]AGTGTGTGTGT[1], NC_000002.12:g.127947756GT[5], NC_000002.12:g.127947756GT[6], NC_000002.12:g.127947756GT[7], NC_000002.12:g.127947756GT[8], NC_000002.12:g.127947755_127947763TG[10]AGTGTGTGTGT[1], NC_000002.12:g.127947756GT[10], NC_000002.11:g.128705330GT[2], NC_000002.11:g.128705330GT[3], NC_000002.11:g.128705329_128705337TG[5]AGTGTGTGTG[2]T[1], NC_000002.11:g.128705329_128705337TG[5]AGTGTGTGTGT[1], NC_000002.11:g.128705330GT[5], NC_000002.11:g.128705330GT[6], NC_000002.11:g.128705330GT[7], NC_000002.11:g.128705330GT[8], NC_000002.11:g.128705329_128705337TG[10]AGTGTGTGTGT[1], NC_000002.11:g.128705330GT[10]
5.
rs1491495183 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:128018483
(GRCh38)
2:128776057
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128018482:CA:
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00076/9
(
ALFA)
-=0.00012/6
(GnomAD)
-=0.00014/4
(TOMMO)
- HGVS:
6.
rs1491482552 has merged into rs58340147 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:128015953
(GRCh38)
2:128773527
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:128015940:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.13558/679
(1000Genomes)
AA=0.19957/740
(TWINSUK)
AA=0.21977/847
(ALSPAC)
- HGVS:
NC_000002.12:g.128015953_128015958del, NC_000002.12:g.128015954_128015958del, NC_000002.12:g.128015955_128015958del, NC_000002.12:g.128015956_128015958del, NC_000002.12:g.128015957_128015958del, NC_000002.12:g.128015958del, NC_000002.12:g.128015958dup, NC_000002.12:g.128015957_128015958dup, NC_000002.12:g.128015956_128015958dup, NC_000002.12:g.128015955_128015958dup, NC_000002.12:g.128015954_128015958dup, NC_000002.11:g.128773527_128773532del, NC_000002.11:g.128773528_128773532del, NC_000002.11:g.128773529_128773532del, NC_000002.11:g.128773530_128773532del, NC_000002.11:g.128773531_128773532del, NC_000002.11:g.128773532del, NC_000002.11:g.128773532dup, NC_000002.11:g.128773531_128773532dup, NC_000002.11:g.128773530_128773532dup, NC_000002.11:g.128773529_128773532dup, NC_000002.11:g.128773528_128773532dup
7.
rs1491462255 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:128018484
(GRCh38)
2:128776059
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128018484::C
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.00004/1
(GnomAD)
- HGVS:
8.
rs1491457749 has merged into rs1188253573 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:127944911
(GRCh38)
2:128702485
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127944901:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.127944911_127944924del, NC_000002.12:g.127944912_127944924del, NC_000002.12:g.127944913_127944924del, NC_000002.12:g.127944917_127944924del, NC_000002.12:g.127944918_127944924del, NC_000002.12:g.127944919_127944924del, NC_000002.12:g.127944921_127944924del, NC_000002.12:g.127944922_127944924del, NC_000002.12:g.127944923_127944924del, NC_000002.12:g.127944924del, NC_000002.12:g.127944924dup, NC_000002.12:g.127944923_127944924dup, NC_000002.12:g.127944922_127944924dup, NC_000002.12:g.127944921_127944924dup, NC_000002.12:g.127944920_127944924dup, NC_000002.12:g.127944919_127944924dup, NC_000002.12:g.127944918_127944924dup, NC_000002.12:g.127944917_127944924dup, NC_000002.12:g.127944916_127944924dup, NC_000002.12:g.127944924_127944925insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.128702485_128702498del, NC_000002.11:g.128702486_128702498del, NC_000002.11:g.128702487_128702498del, NC_000002.11:g.128702491_128702498del, NC_000002.11:g.128702492_128702498del, NC_000002.11:g.128702493_128702498del, NC_000002.11:g.128702495_128702498del, NC_000002.11:g.128702496_128702498del, NC_000002.11:g.128702497_128702498del, NC_000002.11:g.128702498del, NC_000002.11:g.128702498dup, NC_000002.11:g.128702497_128702498dup, NC_000002.11:g.128702496_128702498dup, NC_000002.11:g.128702495_128702498dup, NC_000002.11:g.128702494_128702498dup, NC_000002.11:g.128702493_128702498dup, NC_000002.11:g.128702492_128702498dup, NC_000002.11:g.128702491_128702498dup, NC_000002.11:g.128702490_128702498dup, NC_000002.11:g.128702498_128702499insAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491457319 has merged into rs60193525 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA
[Show Flanks]
- Chromosome:
- 2:127947005
(GRCh38)
2:128704579
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127946993:AGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000002.12:127946993:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000002.12:127946993:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGA=0./0
(
ALFA)
AG=0.04932/247
(1000Genomes)
AG=0.15561/2608
(TOMMO)
- HGVS:
10.
rs1491441193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGTGTGTGTGAGTGT
[Show Flanks]
- Chromosome:
- 2:127947755
(GRCh38)
2:128705330
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127947755:GTGT:GTGTCTGTGTGTGTGAGTGT
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTCTGTGTGTGTGAGTGT=0./0
(
ALFA)
GTGTCTGTGTGTGTGA=0.000089/10
(GnomAD)
- HGVS:
11.
rs1491406067 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGACTCAGCTCCCCCACCC,TGACTCAGCTCCCCCACCCCGATCCAGTCCTCCTGCACCC
[Show Flanks]
- Chromosome:
- 2:127981395
(GRCh38)
2:128738970
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127981395:CCC:CCCTGACTCAGCTCCCCCACCC,NC_000002.12:127981395:CCC:CCCTGACTCAGCTCCCCCACCCCGATCCAGTCCTCCTGCACCC
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CCCTGACTCAGCTCCCCCACCCCGATCCAGTCCTCCTGCA=0.0108/92
(TOMMO)
CCCTGACTCAGCTCCCCCACCCCGATCCAGTCCTCCTGCA=0.0155/17
(Korea1K)
- HGVS:
12.
rs1491403172 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:127977336
(GRCh38)
2:128734911
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127977336::G
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00023/2
(GnomAD)
- HGVS:
14.
rs1491356017 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 2:128029994
(GRCh38)
2:128787569
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128029994::A,NC_000002.12:128029994::G
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00042/5
(
ALFA)
A=0.00019/2
(TOMMO)
- HGVS:
16.
rs1491263512 has merged into rs753150012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 2:128030004
(GRCh38)
2:128787578
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128029993:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:128029993:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:128029993:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:128029993:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:128029993:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:128029993:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.025/1
(GENOME_DK)
- HGVS:
NC_000002.12:g.128030004_128030006del, NC_000002.12:g.128030005_128030006del, NC_000002.12:g.128030006del, NC_000002.12:g.128030006dup, NC_000002.12:g.128030005_128030006dup, NC_000002.12:g.128030004_128030006dup, NC_000002.11:g.128787578_128787580del, NC_000002.11:g.128787579_128787580del, NC_000002.11:g.128787580del, NC_000002.11:g.128787580dup, NC_000002.11:g.128787579_128787580dup, NC_000002.11:g.128787578_128787580dup
17.
rs1491253754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:128005668
(GRCh38)
2:128763243
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128005668:C:CC
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
C=0.000015/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
18.
rs1491251813 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:128004361
(GRCh38)
2:128761935
(GRCh37)
- Canonical SPDI:
- NC_000002.12:128004360:CT:
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00006/5
(GnomAD)
- HGVS:
19.
rs1491251653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGAGTGTGTGTGAGTGTGTGTGT,GTGTGAGTGTGTGTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGAGTGTGTGTGT,GTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 2:127947760
(GRCh38)
2:128705334
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127947754:TGTGTGTGT:TGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGAGTGTGTGTGAGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGAGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGTGTGTGAGTGTGTGTGT,NC_000002.12:127947754:TGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGT=0./0
(
ALFA)
TGTGTGTGTGTGTGTGTGTGAG=0.00012/2
(TOMMO)
- HGVS:
NC_000002.12:g.127947756GT[2], NC_000002.12:g.127947756GT[3], NC_000002.12:g.127947755_127947763TG[5]AGTGTGTGTG[2]T[1], NC_000002.12:g.127947755_127947763TG[5]AGTGTGTGTGT[1], NC_000002.12:g.127947756GT[5], NC_000002.12:g.127947756GT[6], NC_000002.12:g.127947756GT[7], NC_000002.12:g.127947756GT[8], NC_000002.12:g.127947755_127947763TG[10]AGTGTGTGTGT[1], NC_000002.12:g.127947756GT[10], NC_000002.11:g.128705330GT[2], NC_000002.11:g.128705330GT[3], NC_000002.11:g.128705329_128705337TG[5]AGTGTGTGTG[2]T[1], NC_000002.11:g.128705329_128705337TG[5]AGTGTGTGTGT[1], NC_000002.11:g.128705330GT[5], NC_000002.11:g.128705330GT[6], NC_000002.11:g.128705330GT[7], NC_000002.11:g.128705330GT[8], NC_000002.11:g.128705329_128705337TG[10]AGTGTGTGTGT[1], NC_000002.11:g.128705330GT[10]
20.
rs1491225282 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:127983824
(GRCh38)
2:128741399
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127983824::G
- Gene:
- SAP130 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
- HGVS: