Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (9)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
LMNA	150330	277700	1q21.2	ALA57PRO	0030	WERNER SYNDROME, ATYPICAL	1
LMNA	150330	277700	1q21.2	ARG133LEU	0027	WERNER SYNDROME, ATYPICAL	2
LMNA	150330	248370	1q21.2	ARG471CYS	0025	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	1
LMNA	150330	248370	1q21.2	ARG527CYS	0026	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	1
LMNA	150330	176670	1q21.2	ARG644CYS		HUTCHINSON-GILFORD PROGERIA SYNDROME	1
LMNA	150330	277700	1q21.2	GLU578VAL		WERNER SYNDROME	1
LMNA	150330	176670	1q21.2	GLY608GLY	0022	HUTCHINSON-GILFORD PROGERIA SYNDROME	11
LMNA	150330	176670	1q21.2	GLY608SER	0023	HUTCHINSON-GILFORD PROGERIA SYNDROME	1
LMNA	150330	269700	1q21.2	THR10ILE		SEIP SYNDROME	1

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