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rs58596362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58596362(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156138613
GeneLMNA
is asnp
is mentioned by
dbSNPrs58596362
ebirs58596362
HLIrs58596362
Exacrs58596362
Varsomers58596362
Maprs58596362
PheGenIrs58596362
hapmaprs58596362
1000 genomesrs58596362
hgdprs58596362
ensemblrs58596362
gopubmedrs58596362
geneviewrs58596362
scholarrs58596362
googlers58596362
pharmgkbrs58596362
gwascentralrs58596362
openSNPrs58596362
23andMers58596362
23andMe allrs58596362
SNP Nexus

SNPshotrs58596362
SNPdbers58596362
MSV3drs58596362
GWAS Ctlgrs58596362
Max Magnitude0

rs58596362, also known as c.1824C>T and p.Gly608=, represents a rare mutation in the LMNA gene on chromosome 1.

The rare rs58596362(T) allele is reported to act as an autosomal dominant mutation leading to Hutchinson-Gilford progeria. However, this allele has been reported in data from 23andMe patients who lack progeria symptoms, so it seems likely that this is due to a technical error.

See also OMIM 150330.0022

OMIM150330
Desc
Variant0022
Relatedalso


ClinVar
Risk rs58596362(T;T)
Alt rs58596362(T;T)
Reference rs58596362(C;C)
Significance Pathogenic
Disease Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome not provided Laminopathy Mandibuloacral dysostosis
Variation info
Gene LMNA
CLNDBN Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome not provided Laminopathy Mandibuloacral dysostosis
Reversed 0
HGVS NC_000001.10:g.156108404C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000015593.30, RCV000015594.27, RCV000057364.5, RCV000150957.2, RCV000174182.1,