Links from Protein
Items: 1 to 20 of 337
1.
rs1488867180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:103082839
(GRCh38)
X:102337767
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103082838:T:C
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
2.
rs1485381638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:103084791
(GRCh38)
X:102339719
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103084790:T:G
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1484818755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:103083457
(GRCh38)
X:102338385
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103083456:T:C
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
4.
rs1483814961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:103083496
(GRCh38)
X:102338424
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103083495:A:G
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/3
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
5.
rs1483501931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:103079359
(GRCh38)
X:102334287
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103079358:C:T
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000005/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
6.
rs1482465173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:103079465
(GRCh38)
X:102334393
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103079464:C:T
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
7.
rs1482163713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:103083026
(GRCh38)
X:102337954
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103083025:G:T
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
8.
rs1480550067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:103083682
(GRCh38)
X:102338610
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103083681:C:A,NC_000023.11:103083681:C:T
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000048/1
(
ALFA)
T=0.000005/1
(GnomAD_exomes)
A=0.00001/1
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
NC_000023.11:g.103083682C>A, NC_000023.11:g.103083682C>T, NC_000023.10:g.102338610C>A, NC_000023.10:g.102338610C>T, NG_012572.1:g.14413G>T, NG_012572.1:g.14413G>A, NM_022052.2:c.362G>T, NM_022052.2:c.362G>A, NM_022052.1:c.362G>T, NM_022052.1:c.362G>A, NP_071335.1:p.Gly121Val, NP_071335.1:p.Gly121Asp
9.
rs1479083722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- X:103084383
(GRCh38)
X:102339311
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103084382:T:C,NC_000023.11:103084382:T:G
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000023.11:g.103084383T>C, NC_000023.11:g.103084383T>G, NC_000023.10:g.102339311T>C, NC_000023.10:g.102339311T>G, NG_012572.1:g.13712A>G, NG_012572.1:g.13712A>C, NM_022052.2:c.310A>G, NM_022052.2:c.310A>C, NM_022052.1:c.310A>G, NM_022052.1:c.310A>C, NP_071335.1:p.Asn104Asp, NP_071335.1:p.Asn104His
10.
rs1476653173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:103079444
(GRCh38)
X:102334372
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103079443:T:C
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
11.
rs1475775731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:103083494
(GRCh38)
X:102338422
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103083493:A:G
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
12.
rs1475558793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- X:103080170
(GRCh38)
X:102335098
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103080169:T:A,NC_000023.11:103080169:T:C
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00014/2
(
ALFA)
A=0.00034/1
(KOREAN)
- HGVS:
NC_000023.11:g.103080170T>A, NC_000023.11:g.103080170T>C, NC_000023.10:g.102335098T>A, NC_000023.10:g.102335098T>C, NG_012572.1:g.17925A>T, NG_012572.1:g.17925A>G, NM_022052.2:c.974A>T, NM_022052.2:c.974A>G, NM_022052.1:c.974A>T, NM_022052.1:c.974A>G, NP_071335.1:p.His325Leu, NP_071335.1:p.His325Arg
13.
rs1475182181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:103078584
(GRCh38)
X:102333512
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103078583:A:G
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1473371976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:103079376
(GRCh38)
X:102334304
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103079375:C:A
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1472619898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:103082837
(GRCh38)
X:102337765
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103082836:G:A
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
17.
rs1465414466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:103077741
(GRCh38)
X:102332669
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103077740:C:G
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000005/1
(GnomAD_exomes)
G=0.000019/5
(TOPMED)
- HGVS:
18.
rs1460314794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:103082808
(GRCh38)
X:102337736
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103082807:T:C
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
19.
rs1459401861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:103077673
(GRCh38)
X:102332601
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103077672:G:A
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1457377092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:103093020
(GRCh38)
X:102347948
(GRCh37)
- Canonical SPDI:
- NC_000023.11:103093019:A:G
- Gene:
- NXF3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS: