Links from Gene
Items: 1 to 20 of 1000
2.
rs1491490291 has merged into rs397859220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:7519076
(GRCh38)
19:7583962
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.7519076_7519087del, NC_000019.10:g.7519077_7519087del, NC_000019.10:g.7519078_7519087del, NC_000019.10:g.7519079_7519087del, NC_000019.10:g.7519080_7519087del, NC_000019.10:g.7519081_7519087del, NC_000019.10:g.7519082_7519087del, NC_000019.10:g.7519083_7519087del, NC_000019.10:g.7519084_7519087del, NC_000019.10:g.7519085_7519087del, NC_000019.10:g.7519086_7519087del, NC_000019.10:g.7519087del, NC_000019.10:g.7519087dup, NC_000019.10:g.7519086_7519087dup, NC_000019.10:g.7519085_7519087dup, NC_000019.10:g.7519084_7519087dup, NC_000019.10:g.7519083_7519087dup, NC_000019.10:g.7519082_7519087dup, NC_000019.10:g.7519081_7519087dup, NC_000019.9:g.7583962_7583973del, NC_000019.9:g.7583963_7583973del, NC_000019.9:g.7583964_7583973del, NC_000019.9:g.7583965_7583973del, NC_000019.9:g.7583966_7583973del, NC_000019.9:g.7583967_7583973del, NC_000019.9:g.7583968_7583973del, NC_000019.9:g.7583969_7583973del, NC_000019.9:g.7583970_7583973del, NC_000019.9:g.7583971_7583973del, NC_000019.9:g.7583972_7583973del, NC_000019.9:g.7583973del, NC_000019.9:g.7583973dup, NC_000019.9:g.7583972_7583973dup, NC_000019.9:g.7583971_7583973dup, NC_000019.9:g.7583970_7583973dup, NC_000019.9:g.7583969_7583973dup, NC_000019.9:g.7583968_7583973dup, NC_000019.9:g.7583967_7583973dup, NG_015806.1:g.1467_1478del, NG_015806.1:g.1468_1478del, NG_015806.1:g.1469_1478del, NG_015806.1:g.1470_1478del, NG_015806.1:g.1471_1478del, NG_015806.1:g.1472_1478del, NG_015806.1:g.1473_1478del, NG_015806.1:g.1474_1478del, NG_015806.1:g.1475_1478del, NG_015806.1:g.1476_1478del, NG_015806.1:g.1477_1478del, NG_015806.1:g.1478del, NG_015806.1:g.1478dup, NG_015806.1:g.1477_1478dup, NG_015806.1:g.1476_1478dup, NG_015806.1:g.1475_1478dup, NG_015806.1:g.1474_1478dup, NG_015806.1:g.1473_1478dup, NG_015806.1:g.1472_1478dup
3.
rs1491429440 has merged into rs1447987021 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GATAGA
[Show Flanks]
- Chromosome:
- 19:7518579
(GRCh38)
19:7583465
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7518577:AGA:A,NC_000019.10:7518577:AGA:AGATAGA
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
4.
rs1491377291 has merged into rs397859220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:7519076
(GRCh38)
19:7583962
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:7519064:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.7519076_7519087del, NC_000019.10:g.7519077_7519087del, NC_000019.10:g.7519078_7519087del, NC_000019.10:g.7519079_7519087del, NC_000019.10:g.7519080_7519087del, NC_000019.10:g.7519081_7519087del, NC_000019.10:g.7519082_7519087del, NC_000019.10:g.7519083_7519087del, NC_000019.10:g.7519084_7519087del, NC_000019.10:g.7519085_7519087del, NC_000019.10:g.7519086_7519087del, NC_000019.10:g.7519087del, NC_000019.10:g.7519087dup, NC_000019.10:g.7519086_7519087dup, NC_000019.10:g.7519085_7519087dup, NC_000019.10:g.7519084_7519087dup, NC_000019.10:g.7519083_7519087dup, NC_000019.10:g.7519082_7519087dup, NC_000019.10:g.7519081_7519087dup, NC_000019.9:g.7583962_7583973del, NC_000019.9:g.7583963_7583973del, NC_000019.9:g.7583964_7583973del, NC_000019.9:g.7583965_7583973del, NC_000019.9:g.7583966_7583973del, NC_000019.9:g.7583967_7583973del, NC_000019.9:g.7583968_7583973del, NC_000019.9:g.7583969_7583973del, NC_000019.9:g.7583970_7583973del, NC_000019.9:g.7583971_7583973del, NC_000019.9:g.7583972_7583973del, NC_000019.9:g.7583973del, NC_000019.9:g.7583973dup, NC_000019.9:g.7583972_7583973dup, NC_000019.9:g.7583971_7583973dup, NC_000019.9:g.7583970_7583973dup, NC_000019.9:g.7583969_7583973dup, NC_000019.9:g.7583968_7583973dup, NC_000019.9:g.7583967_7583973dup, NG_015806.1:g.1467_1478del, NG_015806.1:g.1468_1478del, NG_015806.1:g.1469_1478del, NG_015806.1:g.1470_1478del, NG_015806.1:g.1471_1478del, NG_015806.1:g.1472_1478del, NG_015806.1:g.1473_1478del, NG_015806.1:g.1474_1478del, NG_015806.1:g.1475_1478del, NG_015806.1:g.1476_1478del, NG_015806.1:g.1477_1478del, NG_015806.1:g.1478del, NG_015806.1:g.1478dup, NG_015806.1:g.1477_1478dup, NG_015806.1:g.1476_1478dup, NG_015806.1:g.1475_1478dup, NG_015806.1:g.1474_1478dup, NG_015806.1:g.1473_1478dup, NG_015806.1:g.1472_1478dup
5.
rs1491335910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:7518933
(GRCh38)
19:7583819
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7518931:GTG:G
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1491276107 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:7519064
(GRCh38)
19:7583950
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7519063:CA:
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00051/6
(
ALFA)
-=0.00019/7
(GnomAD)
-=0.00188/50
(TOMMO)
- HGVS:
7.
rs1491246319 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:7519065
(GRCh38)
19:7583952
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7519065::C
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491159869 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAAAGAAAGAAAGAA
[Show Flanks]
- Chromosome:
- 19:7518578
(GRCh38)
19:7583465
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7518578:GAAAGAAAGAAAGAA:GAAAGAAAGAAAGAAGGAAAGAAAGAAAGAA
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
GAAAGAAAGAAAGAAG=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490793554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:7512598
(GRCh38)
19:7577484
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7512597:C:G
- Gene:
- ZNF358 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489903127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:7520425
(GRCh38)
19:7585311
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7520424:C:T
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.7520425C>T, NC_000019.9:g.7585311C>T, NG_015806.1:g.2816C>T, NM_018083.5:c.1183C>T, NM_018083.4:c.1183C>T, XM_005272460.4:c.1183C>T, XM_005272460.3:c.1183C>T, XM_005272460.2:c.1183C>T, XM_005272460.1:c.1183C>T, XM_047438181.1:c.1240C>T, XM_011527695.1:c.1183C>T, NP_060553.4:p.Arg395Trp, XP_005272517.1:p.Arg395Trp, XP_047294137.1:p.Arg414Trp, XP_011525997.1:p.Arg395Trp
12.
rs1489773027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:7513638
(GRCh38)
19:7578524
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7513637:G:A
- Gene:
- ZNF358 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488921435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:7516201
(GRCh38)
19:7581087
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7516200:C:T
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
14.
rs1488807683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:7515312
(GRCh38)
19:7580198
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7515311:C:G,NC_000019.10:7515311:C:T
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
NC_000019.10:g.7515312C>G, NC_000019.10:g.7515312C>T, NC_000019.9:g.7580198C>G, NC_000019.9:g.7580198C>T, XM_005272460.4:c.-133C>G, XM_005272460.4:c.-133C>T, XM_005272460.3:c.-133C>G, XM_005272460.3:c.-133C>T, XM_005272460.2:c.-133C>G, XM_005272460.2:c.-133C>T, XM_005272460.1:c.-133C>G, XM_005272460.1:c.-133C>T
15.
rs1488622753 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 19:7512119
(GRCh38)
19:7577005
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7512118:TTTTT:TTTT
- Gene:
- ZNF358 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488424008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:7519809
(GRCh38)
19:7584695
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7519808:C:T
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.7519809C>T, NC_000019.9:g.7584695C>T, NG_015806.1:g.2200C>T, NM_018083.5:c.567C>T, NM_018083.4:c.567C>T, XM_005272460.4:c.567C>T, XM_005272460.3:c.567C>T, XM_005272460.2:c.567C>T, XM_005272460.1:c.567C>T, XM_047438181.1:c.624C>T, XM_011527695.1:c.567C>T
17.
rs1488365002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:7520521
(GRCh38)
19:7585407
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7520520:G:A
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
- HGVS:
NC_000019.10:g.7520521G>A, NC_000019.9:g.7585407G>A, NG_015806.1:g.2912G>A, NM_018083.5:c.1279G>A, NM_018083.4:c.1279G>A, XM_005272460.4:c.1279G>A, XM_005272460.3:c.1279G>A, XM_005272460.2:c.1279G>A, XM_005272460.1:c.1279G>A, XM_047438181.1:c.1336G>A, XM_011527695.1:c.1279G>A, NP_060553.4:p.Ala427Thr, XP_005272517.1:p.Ala427Thr, XP_047294137.1:p.Ala446Thr, XP_011525997.1:p.Ala427Thr
18.
rs1488195859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:7512209
(GRCh38)
19:7577095
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7512208:C:A
- Gene:
- ZNF358 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488098262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:7519525
(GRCh38)
19:7584411
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7519524:G:A
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000031/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.7519525G>A, NC_000019.9:g.7584411G>A, NG_015806.1:g.1916G>A, NM_018083.5:c.283G>A, NM_018083.4:c.283G>A, XM_005272460.4:c.283G>A, XM_005272460.3:c.283G>A, XM_005272460.2:c.283G>A, XM_005272460.1:c.283G>A, XM_047438181.1:c.340G>A, XM_011527695.1:c.283G>A, NP_060553.4:p.Asp95Asn, XP_005272517.1:p.Asp95Asn, XP_047294137.1:p.Asp114Asn, XP_011525997.1:p.Asp95Asn
20.
rs1488062928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:7519739
(GRCh38)
19:7584625
(GRCh37)
- Canonical SPDI:
- NC_000019.10:7519738:T:C
- Gene:
- ZNF358 (Varview), LOC105372261 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
- HGVS:
NC_000019.10:g.7519739T>C, NC_000019.9:g.7584625T>C, NG_015806.1:g.2130T>C, NM_018083.5:c.497T>C, NM_018083.4:c.497T>C, XM_005272460.4:c.497T>C, XM_005272460.3:c.497T>C, XM_005272460.2:c.497T>C, XM_005272460.1:c.497T>C, XM_047438181.1:c.554T>C, XM_011527695.1:c.497T>C, NP_060553.4:p.Leu166Pro, XP_005272517.1:p.Leu166Pro, XP_047294137.1:p.Leu185Pro, XP_011525997.1:p.Leu166Pro