Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7.8 Schwartz Jampel syndrome type 1
(A;G) 3 Carrier for a Schwartz Jampel syndrome mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position21864874
GeneHSPG2
is asnp
is mentioned by
dbSNPrs137853248
dbSNP (old)rs137853248
ClinGenrs137853248
ebirs137853248
HLIrs137853248
Exacrs137853248
Gnomadrs137853248
Varsomers137853248
Maprs137853248
PheGenIrs137853248
Biobankrs137853248
1000 genomesrs137853248
hgdprs137853248
ensemblrs137853248
gopubmedrs137853248
geneviewrs137853248
scholarrs137853248
googlers137853248
pharmgkbrs137853248
gwascentralrs137853248
openSNPrs137853248
23andMers137853248
23andMe allrs137853248
SNP Nexus

SNPshotrs137853248
SNPdbers137853248
MSV3drs137853248
GWAS Ctlgrs137853248
Max Magnitude7.8

aka c.4595G>A, p.Cys1532Tyr and C1532Y

OMIM cites a paper stating this mutation as leading to (recessively inherited) Schwartz Jampel syndrome type 1, however, note the mention of a subsequent paper questioning whether there was an additional cause.

OMIM142461
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs137853248(A;A)
Alt Rs137853248(A;A)
Reference Rs137853248(G;G)
Significance Pathogenic
Disease Schwartz Jampel syndrome type 1
Variation info
Gene HSPG2
CLNDBN Schwartz Jampel syndrome type 1
Reversed 1
HGVS NC_000001.10:g.22191367C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016053.22,