rs1805137

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Rhizomelic Chondrodysplasia Punctata Type 1
(A;T)	3	Rhizomelic Chondrodysplasia Punctata Type 1 carrier
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

136898213

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs1805137
dbSNP (classic)	rs1805137
ClinGen	rs1805137
ebi	rs1805137
HLI	rs1805137
Exac	rs1805137
Gnomad	rs1805137
Varsome	rs1805137
LitVar	rs1805137
Map	rs1805137
PheGenI	rs1805137
Biobank	rs1805137
1000 genomes	rs1805137
hgdp	rs1805137
ensembl	rs1805137
geneview	rs1805137
scholar	rs1805137
google	rs1805137
pharmgkb	rs1805137
gwascentral	rs1805137
openSNP	rs1805137
23andMe	rs1805137
SNPshot	rs1805137
SNPdbe	rs1805137
MSV3d	rs1805137
GWAS Ctlg	rs1805137

Max Magnitude

5

rs1805137, also known as c.875T>A, p.Leu292Ter or L292X, is a mutation in the peroxisome targeting signal 2 receptor PEX7 gene.

This mutation, if inherited in two copies or with another defective PEX7 allele, is considered causative for Rhizomelic chondrodysplasia punctata type 1.

This SNP is also called i3002517 and i6055953 by 23andMe.

OMIM	601757
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs1805137(A;A)
Alt	Rs1805137(A;A)
Reference	Rs1805137(T;T)
Significance	Other
Disease	Rhizomelic chondrodysplasia punctata type 1 not provided PEX7-Related Disorders Peroxisome biogenesis disorder 9B
Variation	info
Gene	PEX7
CLNDBN	Rhizomelic chondrodysplasia punctata type 1 not provided PEX7-Related Disorders Peroxisome biogenesis disorder 9B
Reversed	0
HGVS	NC_000006.11:g.137219351T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008222.6, RCV000339271.1, RCV000352824.1, RCV000380952.1, RCV000477898.1,