rs121434325

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121434325(C;T)

Make rs121434325(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

60904794

Gene

ERCC8

is a	snp
is	mentioned by
dbSNP	rs121434325
dbSNP (classic)	rs121434325
ClinGen	rs121434325
ebi	rs121434325
HLI	rs121434325
Exac	rs121434325
Gnomad	rs121434325
Varsome	rs121434325
LitVar	rs121434325
Map	rs121434325
PheGenI	rs121434325
Biobank	rs121434325
1000 genomes	rs121434325
hgdp	rs121434325
ensembl	rs121434325
geneview	rs121434325
scholar	rs121434325
google	rs121434325
pharmgkb	rs121434325
gwascentral	rs121434325
openSNP	rs121434325
23andMe	rs121434325
SNPshot	rs121434325
SNPdbe	rs121434325
MSV3d	rs121434325
GWAS Ctlg	rs121434325

Max Magnitude

0

OMIM	609412
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434325(T;T)
Alt	rs121434325(T;T)
Reference	Rs121434325(C;C)
Significance	Pathogenic
Disease	Cockayne syndrome type A not provided
Variation	info
Gene	ERCC8
CLNDBN	Cockayne syndrome type A not provided
Reversed	1
HGVS	NC_000005.9:g.60200621G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000001787.3, RCV000059647.2,

[PMID 15744458] Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.