Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (8)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
ERCC6	133540	133540	10q11	3614delT		COCKAYNE SYNDROME, TYPE B	2
ERCC6	133540	133540	10q11	3615delA		COCKAYNE SYNDROME, TYPE B	1
ERCC6	133540	133540	10q11	ARG670TRP		COCKAYNE SYNDROME, TYPE B	1
ERCC6	133540	133540	10q11	ARG735TER	0002	COCKAYNE SYNDROME, TYPE B; DE SANCTIS-CACCHIONE SYNDROME, INCLUDED	2
ERCC6	133540	133540	10q11	ARG857TER		COCKAYNE SYNDROME, TYPE B	1
ERCC6	133540	278800	10q11	c.2282C>T (p.R735X)	2	DE SANCTIS-CACCHIONE SYNDROME	1
ERCC6	133540	133540	10q11	DEL EX10		COCKAYNE SYNDROME, TYPE B	2
ERCC6	133540	133540	10q11	LYS337TER		COCKAYNE SYNDROME, TYPE B	2

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