Links from Gene
Items: 1 to 20 of 1000
1.
rs1491493312 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:161238094
(GRCh38)
3:160955882
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161238093:CT:
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(ExAC)
- HGVS:
2.
rs1491368197 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:161253398
(GRCh38)
3:160971186
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161253397:TA:
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491266209 has merged into rs11301799 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:161232149
(GRCh38)
3:160949937
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161232136:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.48442/2426
(1000Genomes)
- HGVS:
NC_000003.12:g.161232149_161232157del, NC_000003.12:g.161232151_161232157del, NC_000003.12:g.161232153_161232157del, NC_000003.12:g.161232154_161232157del, NC_000003.12:g.161232155_161232157del, NC_000003.12:g.161232156_161232157del, NC_000003.12:g.161232157del, NC_000003.12:g.161232157dup, NC_000003.12:g.161232156_161232157dup, NC_000003.12:g.161232155_161232157dup, NC_000003.12:g.161232154_161232157dup, NC_000003.12:g.161232144_161232157dup, NC_000003.12:g.161232140_161232157dup, NC_000003.12:g.161232157_161232158insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.161232157_161232158insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.160949937_160949945del, NC_000003.11:g.160949939_160949945del, NC_000003.11:g.160949941_160949945del, NC_000003.11:g.160949942_160949945del, NC_000003.11:g.160949943_160949945del, NC_000003.11:g.160949944_160949945del, NC_000003.11:g.160949945del, NC_000003.11:g.160949945dup, NC_000003.11:g.160949944_160949945dup, NC_000003.11:g.160949943_160949945dup, NC_000003.11:g.160949942_160949945dup, NC_000003.11:g.160949932_160949945dup, NC_000003.11:g.160949928_160949945dup, NC_000003.11:g.160949945_160949946insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.160949945_160949946insTTTTTTTTTTTTTTTTTTTTTTT, NG_047147.1:g.15888_15896del, NG_047147.1:g.15890_15896del, NG_047147.1:g.15892_15896del, NG_047147.1:g.15893_15896del, NG_047147.1:g.15894_15896del, NG_047147.1:g.15895_15896del, NG_047147.1:g.15896del, NG_047147.1:g.15896dup, NG_047147.1:g.15895_15896dup, NG_047147.1:g.15894_15896dup, NG_047147.1:g.15893_15896dup, NG_047147.1:g.15883_15896dup, NG_047147.1:g.15879_15896dup, NG_047147.1:g.15896_15897insTTTTTTTTTTTTTTTTTTTTTT, NG_047147.1:g.15896_15897insTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491205376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATA
[Show Flanks]
- Chromosome:
- 3:161234440
(GRCh38)
3:160952229
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161234440:ATA:ATACATA
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATACATA=0./0
(
ALFA)
ATAC=0.000008/2
(TOPMED)
- HGVS:
5.
rs1491118461 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:161221988
(GRCh38)
3:160939776
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161221987:TA:
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000068/8
(GnomAD_exomes)
- HGVS:
6.
rs1491074983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:161246944
(GRCh38)
3:160964732
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161246942:TGT:T
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000071/1
(TOMMO)
- HGVS:
7.
rs1490983774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:161237870
(GRCh38)
3:160955658
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161237869:G:C
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490932159 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:161238926
(GRCh38)
3:160956715
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161238926:AAAAA:AAAAAA
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490885394 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:161224071
(GRCh38)
3:160941859
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161224070:TTT:TT
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
10.
rs1490628854 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TGCA>-
[Show Flanks]
- Chromosome:
- 3:161228780
(GRCh38)
3:160946568
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161228779:TGCA:
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490586307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 3:161238085
(GRCh38)
3:160955873
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161238084:T:C,NC_000003.12:161238084:T:G
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000005/1
(GnomAD_exomes)
- HGVS:
12.
rs1490573166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:161246754
(GRCh38)
3:160964542
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161246753:G:A,NC_000003.12:161246753:G:C
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
13.
rs1490247819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:161244329
(GRCh38)
3:160962117
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161244328:A:G
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490191249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:161241743
(GRCh38)
3:160959531
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161241742:T:G
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489952357 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAT>-
[Show Flanks]
- Chromosome:
- 3:161225386
(GRCh38)
3:160943174
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161225381:TTATTAT:TTAT
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTAT=0.000054/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000029/4
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
17.
rs1489896750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:161247769
(GRCh38)
3:160965557
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161247768:A:G
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489870924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:161246766
(GRCh38)
3:160964554
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161246765:G:T
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_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.
rs1489746897 has merged into rs376329329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:161221970
(GRCh38)
3:160939758
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:161221958:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.2226/1115
(1000Genomes)
- HGVS:
NC_000003.12:g.161221970_161221988del, NC_000003.12:g.161221971_161221988del, NC_000003.12:g.161221972_161221988del, NC_000003.12:g.161221973_161221988del, NC_000003.12:g.161221974_161221988del, NC_000003.12:g.161221975_161221988del, NC_000003.12:g.161221976_161221988del, NC_000003.12:g.161221977_161221988del, NC_000003.12:g.161221978_161221988del, NC_000003.12:g.161221979_161221988del, NC_000003.12:g.161221980_161221988del, NC_000003.12:g.161221981_161221988del, NC_000003.12:g.161221982_161221988del, NC_000003.12:g.161221983_161221988del, NC_000003.12:g.161221984_161221988del, NC_000003.12:g.161221985_161221988del, NC_000003.12:g.161221986_161221988del, NC_000003.12:g.161221987_161221988del, NC_000003.12:g.161221988del, NC_000003.12:g.161221988dup, NC_000003.12:g.161221987_161221988dup, NC_000003.12:g.161221986_161221988dup, NC_000003.12:g.161221985_161221988dup, NC_000003.12:g.161221984_161221988dup, NC_000003.12:g.161221983_161221988dup, NC_000003.12:g.161221982_161221988dup, NC_000003.12:g.161221981_161221988dup, NC_000003.12:g.161221980_161221988dup, NC_000003.12:g.161221978_161221988dup, NC_000003.12:g.161221968_161221988dup, NC_000003.12:g.161221988_161221989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.160939758_160939776del, NC_000003.11:g.160939759_160939776del, NC_000003.11:g.160939760_160939776del, NC_000003.11:g.160939761_160939776del, NC_000003.11:g.160939762_160939776del, NC_000003.11:g.160939763_160939776del, NC_000003.11:g.160939764_160939776del, NC_000003.11:g.160939765_160939776del, NC_000003.11:g.160939766_160939776del, NC_000003.11:g.160939767_160939776del, NC_000003.11:g.160939768_160939776del, NC_000003.11:g.160939769_160939776del, NC_000003.11:g.160939770_160939776del, NC_000003.11:g.160939771_160939776del, NC_000003.11:g.160939772_160939776del, NC_000003.11:g.160939773_160939776del, NC_000003.11:g.160939774_160939776del, NC_000003.11:g.160939775_160939776del, NC_000003.11:g.160939776del, NC_000003.11:g.160939776dup, NC_000003.11:g.160939775_160939776dup, NC_000003.11:g.160939774_160939776dup, NC_000003.11:g.160939773_160939776dup, NC_000003.11:g.160939772_160939776dup, NC_000003.11:g.160939771_160939776dup, NC_000003.11:g.160939770_160939776dup, NC_000003.11:g.160939769_160939776dup, NC_000003.11:g.160939768_160939776dup, NC_000003.11:g.160939766_160939776dup, NC_000003.11:g.160939756_160939776dup, NC_000003.11:g.160939776_160939777insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047147.1:g.5709_5727del, NG_047147.1:g.5710_5727del, NG_047147.1:g.5711_5727del, NG_047147.1:g.5712_5727del, NG_047147.1:g.5713_5727del, NG_047147.1:g.5714_5727del, NG_047147.1:g.5715_5727del, NG_047147.1:g.5716_5727del, NG_047147.1:g.5717_5727del, NG_047147.1:g.5718_5727del, NG_047147.1:g.5719_5727del, NG_047147.1:g.5720_5727del, NG_047147.1:g.5721_5727del, NG_047147.1:g.5722_5727del, NG_047147.1:g.5723_5727del, NG_047147.1:g.5724_5727del, NG_047147.1:g.5725_5727del, NG_047147.1:g.5726_5727del, NG_047147.1:g.5727del, NG_047147.1:g.5727dup, NG_047147.1:g.5726_5727dup, NG_047147.1:g.5725_5727dup, NG_047147.1:g.5724_5727dup, NG_047147.1:g.5723_5727dup, NG_047147.1:g.5722_5727dup, NG_047147.1:g.5721_5727dup, NG_047147.1:g.5720_5727dup, NG_047147.1:g.5719_5727dup, NG_047147.1:g.5717_5727dup, NG_047147.1:g.5707_5727dup, NG_047147.1:g.5727_5728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1489739511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:161238812
(GRCh38)
3:160956600
(GRCh37)
- Canonical SPDI:
- NC_000003.12:161238811:G:T
- Gene:
- NMD3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000113/5
(
ALFA)
T=0.000009/2
(GnomAD_exomes)
T=0.000038/10
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
NC_000003.12:g.161238812G>T, NC_000003.11:g.160956600G>T, NG_047147.1:g.22551G>T, NM_015938.5:c.739G>T, NM_015938.4:c.739G>T, NM_015938.3:c.739G>T, NM_001320227.1:c.739G>T, NM_001320227.2:c.739G>T, XM_005247511.3:c.739G>T, XM_005247511.2:c.739G>T, XM_005247511.1:c.739G>T, XM_005247512.2:c.739G>T, XM_005247512.1:c.739G>T, XR_007095682.1:n.858G>T, NP_057022.2:p.Val247Phe, NP_001307156.1:p.Val247Phe, XP_005247568.1:p.Val247Phe, XP_005247569.1:p.Val247Phe