Links from Protein
Items: 1 to 20 of 333
2.
rs1489786738 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTC
[Show Flanks]
- Chromosome:
- 17:35121824
(GRCh38)
17:33448844
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35121824:CGTC:CGTCGTC
- Gene:
- RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
- Functional Consequence:
- coding_sequence_variant,inframe_insertion,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
CGT=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1486878443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:35121720
(GRCh38)
17:33448739
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35121719:GGG:GG
- Gene:
- RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
4.
rs1485586150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35127124
(GRCh38)
17:33454143
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127123:A:G
- Gene:
- FNDC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1481936867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35127403
(GRCh38)
17:33454422
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127402:A:G
- Gene:
- FNDC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
6.
rs1480501242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:35130343
(GRCh38)
17:33457362
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35130342:T:G
- Gene:
- NLE1 (Varview), FNDC8 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1476617749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35127321
(GRCh38)
17:33454340
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127320:A:G
- Gene:
- FNDC8 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1465679721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:35121749
(GRCh38)
17:33448768
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35121748:A:T
- Gene:
- RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1460808091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35121763
(GRCh38)
17:33448782
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35121762:A:G
- Gene:
- RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1459979734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:35129569
(GRCh38)
17:33456588
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35129568:C:G
- Gene:
- NLE1 (Varview), FNDC8 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
11.
rs1457654196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:35121785
(GRCh38)
17:33448804
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35121784:T:C
- Gene:
- RAD51D (Varview), FNDC8 (Varview), RAD51L3-RFFL (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1453040200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35129480
(GRCh38)
17:33456499
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35129479:A:G
- Gene:
- NLE1 (Varview), FNDC8 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1447797364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:35127121
(GRCh38)
17:33454140
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127120:C:A
- Gene:
- FNDC8 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1446533208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35127151
(GRCh38)
17:33454170
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127150:A:G
- Gene:
- FNDC8 (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=0.000014/2
(GnomAD)
- HGVS:
15.
rs1446423311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:35129646
(GRCh38)
17:33456665
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35129645:C:G,NC_000017.11:35129645:C:T
- Gene:
- NLE1 (Varview), FNDC8 (Varview)
- Functional Consequence:
- synonymous_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.35129646C>G, NC_000017.11:g.35129646C>T, NC_000017.10:g.33456665C>G, NC_000017.10:g.33456665C>T, NG_054719.1:g.13068C>G, NG_054719.1:g.13068C>T, NM_017559.4:c.810C>G, NM_017559.4:c.810C>T, NM_017559.3:c.810C>G, NM_017559.3:c.810C>T, NM_017559.2:c.810C>G, NM_017559.2:c.810C>T, NM_018096.5:c.*2791G>C, NM_018096.5:c.*2791G>A, XM_017024777.2:c.*2791G>C, XM_017024777.2:c.*2791G>A, XM_017024777.1:c.*2791G>C, XM_017024777.1:c.*2791G>A, NP_060029.1:p.Cys270Trp
16.
rs1433675700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:35127223
(GRCh38)
17:33454242
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127222:G:A
- Gene:
- FNDC8 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1433337410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35127154
(GRCh38)
17:33454173
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127153:A:G
- Gene:
- FNDC8 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00035/6
(TOMMO)
- HGVS:
18.
rs1426937681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:35121882
(GRCh38)
17:33448901
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35121881:G:C
- Gene:
- FNDC8 (Varview), RAD51L3-RFFL (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000028/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1424935930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:35130414
(GRCh38)
17:33457433
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35130413:G:A
- Gene:
- NLE1 (Varview), FNDC8 (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000031/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1423921631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35127311
(GRCh38)
17:33454330
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35127310:A:G
- Gene:
- FNDC8 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: