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rs80338732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338732(C;C)
Make rs80338732(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107640939
GenePRPS1
is asnp
is mentioned by
dbSNPrs80338732
ebirs80338732
HLIrs80338732
Exacrs80338732
Varsomers80338732
Maprs80338732
PheGenIrs80338732
hapmaprs80338732
1000 genomesrs80338732
hgdprs80338732
ensemblrs80338732
gopubmedrs80338732
geneviewrs80338732
scholarrs80338732
googlers80338732
pharmgkbrs80338732
gwascentralrs80338732
openSNPrs80338732
23andMers80338732
23andMe allrs80338732
SNP Nexus

SNPshotrs80338732
SNPdbers80338732
MSV3drs80338732
GWAS Ctlgrs80338732
Max Magnitude0
OMIM311850
Desc
Variant0010
Relatedalso


ClinVar
Risk rs80338732(C;C)
Alt rs80338732(C;C)
Reference rs80338732(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene PRPS1
CLNDBN Charcot-Marie-Tooth disease, X-linked recessive, type 5
Reversed 0
HGVS NC_000023.10:g.106884169T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010613.3,



[PMID 17701900OA-icon.png] Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).