rs57520892(C;C)

Is a	genotype
of	rs57520892
Gene	LMNA
Chromosome	1
Position	156,137,204
mentioned	by

Magnitude

5

Repute

Bad

Geno	Mag	Summary
(A;G)	3	Carrier of a mandibuloacral dysplasia mutation
(C;C)	5
(C;G)	6	Emery-Dreifuss muscular dystrophy (predicted)
(G;G)	0	common in clinvar

This is one of the mutations described at

• https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation
• http://www.thisamericanlife.org/radio-archives/episode/577/something-only-i-can-see