rs61753238

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

136822785

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs61753238
dbSNP (classic)	rs61753238
ClinGen	rs61753238
ebi	rs61753238
HLI	rs61753238
Exac	rs61753238
Gnomad	rs61753238
Varsome	rs61753238
LitVar	rs61753238
Map	rs61753238
PheGenI	rs61753238
Biobank	rs61753238
1000 genomes	rs61753238
hgdp	rs61753238
ensembl	rs61753238
geneview	rs61753238
scholar	rs61753238
google	rs61753238
pharmgkb	rs61753238
gwascentral	rs61753238
openSNP	rs61753238
23andMe	rs61753238
SNPshot	rs61753238
SNPdbe	rs61753238
MSV3d	rs61753238
GWAS Ctlg	rs61753238

Max Magnitude

7

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.

OMIM	601757
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs61753238(G;G) rs61753238(T;T)
Alt	Rs61753238(G;G) rs61753238(T;T)
Reference	Rs61753238(C;C)
Significance	Pathogenic
Disease	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 PEX7-Related Disorders
Variation	info
Gene	PEX7
CLNDBN	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 PEX7-Related Disorders
Reversed	0
HGVS	NC_000006.11:g.137143923C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008230.5, RCV000147254.3, RCV000324320.1,

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