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rs61753238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of one Rhizomelic Chondrodysplasia Punctata Type I disorder allele
(G;G) 7 Rhizomelic Chondrodysplasia Punctata Type I disorder
ReferenceGRCh38 38.1/141
Chromosome6
Position136822785
GenePEX7
is asnp
is mentioned by
dbSNPrs61753238
ebirs61753238
HLIrs61753238
Exacrs61753238
Varsomers61753238
Maprs61753238
PheGenIrs61753238
hapmaprs61753238
1000 genomesrs61753238
hgdprs61753238
ensemblrs61753238
gopubmedrs61753238
geneviewrs61753238
scholarrs61753238
googlers61753238
pharmgkbrs61753238
gwascentralrs61753238
openSNPrs61753238
23andMers61753238
23andMe allrs61753238
SNP Nexus

SNPshotrs61753238
SNPdbers61753238
MSV3drs61753238
GWAS Ctlgrs61753238
Max Magnitude7

rs61753238, also known as Tyr40Ter or Y40X, is a mutation in the PEX7 gene on chromosome 6. The rare variant rs61753238(G) allele leads to the autosomal recessive disorder Rhizomelic chondrodysplasia punctata type 1 disorder when inherited in two copies or in compound heterozygotes.

OMIM601757
Desc
Variant0009
Relatedalso


ClinVar
Risk rs61753238(G;G)
Alt rs61753238(G;G)
Reference rs61753238(C;C)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137143923C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008230.4, RCV000147254.2,



[PMID 12522768OA-icon.png] Identification of PEX7 as the second gene involved in Refsum disease.