rs58596362

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	Progeria - but more likely a technical/lab error

Make rs58596362(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156138613

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs58596362
dbSNP (classic)	rs58596362
ClinGen	rs58596362
ebi	rs58596362
HLI	rs58596362
Exac	rs58596362
Gnomad	rs58596362
Varsome	rs58596362
LitVar	rs58596362
Map	rs58596362
PheGenI	rs58596362
Biobank	rs58596362
1000 genomes	rs58596362
hgdp	rs58596362
ensembl	rs58596362
geneview	rs58596362
scholar	rs58596362
google	rs58596362
pharmgkb	rs58596362
gwascentral	rs58596362
openSNP	rs58596362
23andMe	rs58596362
SNPshot	rs58596362
SNPdbe	rs58596362
MSV3d	rs58596362
GWAS Ctlg	rs58596362

Max Magnitude

4

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

OMIM	150330
Desc
Variant	0022
Related	also

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,