Links from Gene
Items: 1 to 20 of 1000
1.
rs1491549944 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-,TCCTCATCTCATCTCATCTCTC,TCCTCTC
[Show Flanks]
- Chromosome:
- 12:103840384
(GRCh38)
12:104234162
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103840381:TCTC:TC,NC_000012.12:103840381:TCTC:TCTCCTCATCTCATCTCATCTCTC,NC_000012.12:103840381:TCTC:TCTCCTCTC
- Gene:
- NT5DC3 (Varview), LOC107984433 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0.00025/3
(
ALFA)
-=0./0
(Korea1K)
TCTCC=0.00004/2
(GnomAD)
-=0.0003/5
(TOMMO)
- HGVS:
2.
rs1491529486 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 12:103840394
(GRCh38)
12:104234172
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103840391:TCTC:TC
- Gene:
- NT5DC3 (Varview), LOC107984433 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
5.
rs1491492222 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 12:103840389
(GRCh38)
12:104234167
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103840386:TCTC:TC
- Gene:
- NT5DC3 (Varview), LOC107984433 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0.000253/3
(
ALFA)
-=0.000107/2
(TOMMO)
-=0.000192/22
(GnomAD)
- HGVS:
6.
rs1491483151 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:103833718
(GRCh38)
12:104227497
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103833718:G:GG
- Gene:
- NT5DC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
7.
rs1491463569 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 12:103766453
(GRCh38)
12:104160231
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103766452:CC:
- Gene:
- NT5DC3 (Varview), STAB2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.103766453_103766454del, NC_000012.11:g.104160231_104160232del, NM_017564.10:c.*117_*118del, NM_017564.9:c.*117_*118del, XM_011538539.3:c.*117_*118del, XM_011538539.2:c.*117_*118del, XM_011538539.1:c.*117_*118del, XM_011538542.3:c.*117_*118del, XM_011538542.2:c.*117_*118del, XM_011538542.1:c.*117_*118del, XM_011538541.2:c.*117_*118del, XM_011538541.1:c.*117_*118del
8.
rs1491455772 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 12:103840404
(GRCh38)
12:104234182
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103840401:TCTC:TC
- Gene:
- NT5DC3 (Varview), LOC107984433 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTC=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
9.
rs1491420099 has merged into rs34163004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:103805857
(GRCh38)
12:104199635
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103805845:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NT5DC3 (Varview), LOC124903000 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAA=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.103805857_103805870del, NC_000012.12:g.103805858_103805870del, NC_000012.12:g.103805859_103805870del, NC_000012.12:g.103805860_103805870del, NC_000012.12:g.103805861_103805870del, NC_000012.12:g.103805862_103805870del, NC_000012.12:g.103805863_103805870del, NC_000012.12:g.103805864_103805870del, NC_000012.12:g.103805865_103805870del, NC_000012.12:g.103805866_103805870del, NC_000012.12:g.103805867_103805870del, NC_000012.12:g.103805868_103805870del, NC_000012.12:g.103805869_103805870del, NC_000012.12:g.103805870del, NC_000012.12:g.103805870dup, NC_000012.12:g.103805869_103805870dup, NC_000012.12:g.103805868_103805870dup, NC_000012.12:g.103805867_103805870dup, NC_000012.12:g.103805866_103805870dup, NC_000012.12:g.103805865_103805870dup, NC_000012.11:g.104199635_104199648del, NC_000012.11:g.104199636_104199648del, NC_000012.11:g.104199637_104199648del, NC_000012.11:g.104199638_104199648del, NC_000012.11:g.104199639_104199648del, NC_000012.11:g.104199640_104199648del, NC_000012.11:g.104199641_104199648del, NC_000012.11:g.104199642_104199648del, NC_000012.11:g.104199643_104199648del, NC_000012.11:g.104199644_104199648del, NC_000012.11:g.104199645_104199648del, NC_000012.11:g.104199646_104199648del, NC_000012.11:g.104199647_104199648del, NC_000012.11:g.104199648del, NC_000012.11:g.104199648dup, NC_000012.11:g.104199647_104199648dup, NC_000012.11:g.104199646_104199648dup, NC_000012.11:g.104199645_104199648dup, NC_000012.11:g.104199644_104199648dup, NC_000012.11:g.104199643_104199648dup
10.
rs1491411881 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTCT
[Show Flanks]
- Chromosome:
- 12:103765078
(GRCh38)
12:104158857
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103765078:TCTGTCT:TCTGTCTGTCT
- Gene:
- NT5DC3 (Varview), STAB2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTGTCTGTCT=0./0
(
ALFA)
TCTG=0.00001/1
(GnomAD)
- HGVS:
11.
rs1491371590 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C,CTCACC
[Show Flanks]
- Chromosome:
- 12:103840382
(GRCh38)
12:104234161
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103840382:C:CC,NC_000012.12:103840382:C:CCTCACC
- Gene:
- NT5DC3 (Varview), LOC107984433 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTCACC=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
12.
rs1491281111 has merged into rs72379630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:103799815
(GRCh38)
12:104193593
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:103799804:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NT5DC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.3726/1866
(1000Genomes)
- HGVS:
NC_000012.12:g.103799815_103799817del, NC_000012.12:g.103799816_103799817del, NC_000012.12:g.103799817del, NC_000012.12:g.103799817dup, NC_000012.12:g.103799816_103799817dup, NC_000012.12:g.103799815_103799817dup, NC_000012.12:g.103799814_103799817dup, NC_000012.12:g.103799813_103799817dup, NC_000012.12:g.103799812_103799817dup, NC_000012.12:g.103799811_103799817dup, NC_000012.12:g.103799810_103799817dup, NC_000012.12:g.103799809_103799817dup, NC_000012.12:g.103799808_103799817dup, NC_000012.12:g.103799807_103799817dup, NC_000012.12:g.103799806_103799817dup, NC_000012.12:g.103799805_103799817dup, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.103799817_103799818insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193593_104193595del, NC_000012.11:g.104193594_104193595del, NC_000012.11:g.104193595del, NC_000012.11:g.104193595dup, NC_000012.11:g.104193594_104193595dup, NC_000012.11:g.104193593_104193595dup, NC_000012.11:g.104193592_104193595dup, NC_000012.11:g.104193591_104193595dup, NC_000012.11:g.104193590_104193595dup, NC_000012.11:g.104193589_104193595dup, NC_000012.11:g.104193588_104193595dup, NC_000012.11:g.104193587_104193595dup, NC_000012.11:g.104193586_104193595dup, NC_000012.11:g.104193585_104193595dup, NC_000012.11:g.104193584_104193595dup, NC_000012.11:g.104193583_104193595dup, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.104193595_104193596insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
13.
rs1491271060 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 12:103768592
(GRCh38)
12:104162370
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103768590:GGG:G
- Gene:
- NT5DC3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00331/40
(TOMMO)
- HGVS:
16.
rs1491155480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:103831532
(GRCh38)
12:104225311
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103831532:A:AA
- Gene:
- NT5DC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1491142607 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:103805845
(GRCh38)
12:104199623
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103805844:CA:
- Gene:
- NT5DC3 (Varview), LOC124903000 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00093/11
(
ALFA)
-=0.0092/152
(TOMMO)
- HGVS:
18.
rs1491140289 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACCTCACCTCACCTCACC,ATCTCATCTCC,C
[Show Flanks]
- Chromosome:
- 12:103840387
(GRCh38)
12:104234166
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103840387:C:CACCTCACCTCACCTCACC,NC_000012.12:103840387:C:CATCTCATCTCC,NC_000012.12:103840387:C:CC
- Gene:
- NT5DC3 (Varview), LOC107984433 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
19.
rs1491122954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:103840402
(GRCh38)
12:104234181
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103840402:C:CC
- Gene:
- NT5DC3 (Varview), LOC107984433 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1491113277 has merged into rs71097994 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 12:103748620
(GRCh38)
12:104142398
(GRCh37)
- Canonical SPDI:
- NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:103748605:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- NT5DC3 (Varview), STAB2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
ACACACACAC=0.000004/1
(TOPMED)
ACACACACACACACACACAC=0.075/3
(GENOME_DK)
- HGVS:
NC_000012.12:g.103748606AC[7], NC_000012.12:g.103748606AC[8], NC_000012.12:g.103748606AC[9], NC_000012.12:g.103748606AC[10], NC_000012.12:g.103748606AC[11], NC_000012.12:g.103748606AC[12], NC_000012.12:g.103748606AC[13], NC_000012.12:g.103748606AC[14], NC_000012.12:g.103748606AC[15], NC_000012.12:g.103748606AC[16], NC_000012.12:g.103748606AC[17], NC_000012.12:g.103748606AC[18], NC_000012.12:g.103748606AC[19], NC_000012.12:g.103748606AC[20], NC_000012.12:g.103748606AC[21], NC_000012.12:g.103748606AC[22], NC_000012.12:g.103748606AC[23], NC_000012.12:g.103748606AC[24], NC_000012.12:g.103748606AC[25], NC_000012.12:g.103748606AC[26], NC_000012.12:g.103748606AC[28], NC_000012.12:g.103748606AC[29], NC_000012.12:g.103748606AC[30], NC_000012.12:g.103748606AC[31], NC_000012.12:g.103748606AC[32], NC_000012.12:g.103748606AC[33], NC_000012.11:g.104142384AC[7], NC_000012.11:g.104142384AC[8], NC_000012.11:g.104142384AC[9], NC_000012.11:g.104142384AC[10], NC_000012.11:g.104142384AC[11], NC_000012.11:g.104142384AC[12], NC_000012.11:g.104142384AC[13], NC_000012.11:g.104142384AC[14], NC_000012.11:g.104142384AC[15], NC_000012.11:g.104142384AC[16], NC_000012.11:g.104142384AC[17], NC_000012.11:g.104142384AC[18], NC_000012.11:g.104142384AC[19], NC_000012.11:g.104142384AC[20], NC_000012.11:g.104142384AC[21], NC_000012.11:g.104142384AC[22], NC_000012.11:g.104142384AC[23], NC_000012.11:g.104142384AC[24], NC_000012.11:g.104142384AC[25], NC_000012.11:g.104142384AC[26], NC_000012.11:g.104142384AC[28], NC_000012.11:g.104142384AC[29], NC_000012.11:g.104142384AC[30], NC_000012.11:g.104142384AC[31], NC_000012.11:g.104142384AC[32], NC_000012.11:g.104142384AC[33]