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
PARK2	602544	602544	6q25.2-q27	1-BP DEL, 255A	0014	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	1
PARK2	602544	602544	6q25.2-q27	ALA82GLU	0011	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	1
PARK2	602544	602544	6q25.2-q27	ARG275TRP	0017	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	2
PARK2	602544	602544	6q25.2-q27	ARG42PRO			2
PARK2	602544	602544	6q25.2-q27	EX3-4DEL			1
PARK2	602544	602544	6q25.2-q27	EX3DEL	0005	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	2
PARK2	602544	602544	6q25.2-q27	EX4DEL	0002	PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE	4
PARK2	602544	602544	6q25.2-q27	EX5-6 DEL	0022	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	1
PARK2	602544	602544	6q25.2-q27	GLN34ARG			1

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