Links from Protein
Items: 1 to 20 of 377
1.
rs1490276944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:42680104
(GRCh38)
17:40832122
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680103:T:C
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1483925753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42680193
(GRCh38)
17:40832211
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680192:G:A
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000051/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1481832562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:42680195
(GRCh38)
17:40832213
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680194:C:T
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
4.
rs1481518680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:42680496
(GRCh38)
17:40832514
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680495:A:T
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1480341520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:42680038
(GRCh38)
17:40832056
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680037:T:A
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
6.
rs1479584708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:42680434
(GRCh38)
17:40832452
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680433:G:A,NC_000017.11:42680433:G:C
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
NC_000017.11:g.42680434G>A, NC_000017.11:g.42680434G>C, NC_000017.10:g.40832452G>A, NC_000017.10:g.40832452G>C, NG_042091.1:g.2821G>A, NG_042091.1:g.2821G>C, NM_016602.3:c.208C>T, NM_016602.3:c.208C>G, NM_016602.2:c.208C>T, NM_016602.2:c.208C>G, NP_057686.2:p.Arg70Ter, NP_057686.2:p.Arg70Gly
7.
rs1479568709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:42679887
(GRCh38)
17:40831905
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42679886:A:G
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
8.
rs1475303327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:42680592
(GRCh38)
17:40832610
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680591:T:A
- Gene:
- CCR10 (Varview), CNTNAP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
9.
rs1474937998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:42680254
(GRCh38)
17:40832272
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680253:A:C
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
10.
rs1474693679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:42679583
(GRCh38)
17:40831601
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42679582:C:G
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1474053695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 17:42681806
(GRCh38)
17:40833824
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42681805:T:A,NC_000017.11:42681805:T:G
- Gene:
- CCR10 (Varview), CNTNAP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1472800207 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:42679609
(GRCh38)
17:40831627
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42679608:GGGG:GGG
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD_exomes)
- HGVS:
13.
rs1469738877 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGG>-
[Show Flanks]
- Chromosome:
- 17:42680448
(GRCh38)
17:40832466
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680442:GGTGGGTGG:GGTGG
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.000005/1
(GnomAD_exomes)
- HGVS:
17.
rs1459838889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:42679566
(GRCh38)
17:40831584
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42679565:G:A,NC_000017.11:42679565:G:C
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
NC_000017.11:g.42679566G>A, NC_000017.11:g.42679566G>C, NC_000017.10:g.40831584G>A, NC_000017.10:g.40831584G>C, NG_042091.1:g.1953G>A, NG_042091.1:g.1953G>C, NM_016602.3:c.1076C>T, NM_016602.3:c.1076C>G, NM_016602.2:c.1076C>T, NM_016602.2:c.1076C>G, NP_057686.2:p.Ser359Phe, NP_057686.2:p.Ser359Cys
18.
rs1459623477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:42680240
(GRCh38)
17:40832258
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680239:G:T
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
19.
rs1459378307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42680074
(GRCh38)
17:40832092
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42680073:G:A
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1459033010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42679837
(GRCh38)
17:40831855
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42679836:G:A
- Gene:
- CCR10 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: