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rs80338731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338731(A;C)
Make rs80338731(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107639301
GenePRPS1
is asnp
is mentioned by
dbSNPrs80338731
ebirs80338731
HLIrs80338731
Exacrs80338731
Varsomers80338731
Maprs80338731
PheGenIrs80338731
hapmaprs80338731
1000 genomesrs80338731
hgdprs80338731
ensemblrs80338731
gopubmedrs80338731
geneviewrs80338731
scholarrs80338731
googlers80338731
pharmgkbrs80338731
gwascentralrs80338731
openSNPrs80338731
23andMers80338731
23andMe allrs80338731
SNP Nexus

SNPshotrs80338731
SNPdbers80338731
MSV3drs80338731
GWAS Ctlgrs80338731
Max Magnitude0
OMIM311850
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338731(C;C)
Alt rs80338731(C;C)
Reference rs80338731(A;A)
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.106882531A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010612.2,


[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).