Links from Protein
Items: 1 to 20 of 521
1.
rs1489136274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:20242649
(GRCh38)
22:20230172
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242648:G:A,NC_000022.11:20242648:G:C
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,stop_gained
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000022.11:g.20242649G>A, NC_000022.11:g.20242649G>C, NC_000022.10:g.20230172G>A, NC_000022.10:g.20230172G>C, NG_012176.2:g.30645C>T, NG_012176.2:g.30645C>G, NM_023004.6:c.484C>T, NM_023004.6:c.484C>G, NM_023004.5:c.484C>T, NM_023004.5:c.484C>G, NP_075380.1:p.Gln162Ter, NP_075380.1:p.Gln162Glu
2.
rs1483961424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20242332
(GRCh38)
22:20229855
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242331:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1483609019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20241977
(GRCh38)
22:20229500
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20241976:T:C
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1478431874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20242290
(GRCh38)
22:20229813
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242289:G:A
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000005/1
(GnomAD_exomes)
A=0.000223/1
(Estonian)
- HGVS:
5.
rs1478373174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 22:20241760
(GRCh38)
22:20229283
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20241759:G:C,NC_000022.11:20241759:G:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000022.11:g.20241760G>C, NC_000022.11:g.20241760G>T, NC_000022.10:g.20229283G>C, NC_000022.10:g.20229283G>T, NG_012176.2:g.31534C>G, NG_012176.2:g.31534C>A, NM_023004.6:c.1373C>G, NM_023004.6:c.1373C>A, NM_023004.5:c.1373C>G, NM_023004.5:c.1373C>A, NP_075380.1:p.Thr458Ser, NP_075380.1:p.Thr458Asn
6.
rs1474568543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:20243091
(GRCh38)
22:20230614
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20243090:C:G
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00004/1
(TOMMO)
- HGVS:
7.
rs1473535723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20242746
(GRCh38)
22:20230269
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242745:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1473518356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:20242188
(GRCh38)
22:20229711
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242187:A:G
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1472611345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20242506
(GRCh38)
22:20230029
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242505:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1466839267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:20242664
(GRCh38)
22:20230187
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242663:G:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000223/1
(Estonian)
- HGVS:
12.
rs1464355538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20242577
(GRCh38)
22:20230100
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242576:G:A
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1463654073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20241921
(GRCh38)
22:20229444
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20241920:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1461390094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20242606
(GRCh38)
22:20230129
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242605:T:C
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1459464743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20242686
(GRCh38)
22:20230209
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242685:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1457927454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20242569
(GRCh38)
22:20230092
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242568:G:A
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1457325051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:20242446
(GRCh38)
22:20229969
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242445:C:G
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1453431287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20242760
(GRCh38)
22:20230283
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242759:T:C
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1452295510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 22:20242590
(GRCh38)
22:20230113
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242589:T:C,NC_000022.11:20242589:T:G
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000004/1
(GnomAD_exomes)
C=0.000035/1
(TOMMO)
C=0.000343/1
(KOREAN)
- HGVS: