Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (7)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
ERCC5	133530	133530	13q33	1-BP DEL, FS660TER	0004	XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME	2
ERCC5	133530	133530	13q33	1116delTC		XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME	1
ERCC5	133530	133530	13q33	2801delTG		XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME	1
ERCC5	133530	133530	13q33	ALA874THR		XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME	1
ERCC5	133530	133530	13q33	ARG263TER	0005	XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME	1
ERCC5	133530	133530	13q33	GLN136TER		XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME	1
ERCC5	133530	133530	13q33	GLN16TER		XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME	1

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