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rs4253208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) carrier
Make rs4253208(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position49470676
GeneERCC6
is asnp
is mentioned by
dbSNPrs4253208
ebirs4253208
HLIrs4253208
Exacrs4253208
Varsomers4253208
Maprs4253208
PheGenIrs4253208
hapmaprs4253208
1000 genomesrs4253208
hgdprs4253208
ensemblrs4253208
gopubmedrs4253208
geneviewrs4253208
scholarrs4253208
googlers4253208
pharmgkbrs4253208
gwascentralrs4253208
openSNPrs4253208
23andMers4253208
23andMe allrs4253208
SNP Nexus

SNPshotrs4253208
SNPdbers4253208
MSV3drs4253208
GWAS Ctlgrs4253208
GMAF0.008724
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM609413
DescCOCKAYNE SYNDROME, TYPE B
Variant0008
Relatedalso


ClinVar
Risk rs4253208(G,T;G,T)
Alt rs4253208(G,T;G,T)
Reference rs4253208(C;C)
Significance Pathogenic
Disease Cockayne syndrome B not specified not provided
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B not specified not provided
Reversed 1
HGVS NC_000010.10:g.50678722G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001776.4, RCV000170384.1, RCV000224059.1,



GET Evidence
ERCC6-P1095R
aa_change Pro1095Arg
aa_change_short P1095R
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0134783
summary This variant is implicated in causing Cockayne Syndrome in a recessive manner. Although other variants in this gene cause this disease, the only observations supporting this variant is its presence in a single case: a black patient compound heterozygous with a frameshift mutation (and an irrelevant stop codon mutation) on the other allele.