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


Parent Gene: LMNA

Importance: 1
Less common allele: None = None
More common allele: None = None
My Genotype: Log In
Risk Allele: T
Significance: Pathogenic