Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (11)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
GBA	606463	230800	1q21	1-BP INS, 84G	0014	GAUCHER DISEASE, TYPE I	2
GBA	606463	230800	1q21	ARG119GLN, 3060G>A	0004	GAUCHER DISEASE, TYPE I	1
GBA	606463	230800	1q21	ASN370SER	0003	GAUCHER DISEASE, TYPE I	19
GBA	606463	230900	1q21	CYS342GLY	0031	GAUCHER DISEASE, TYPE II	1
GBA	606463	230900	1q21	GLY325ARG	0030	GAUCHER DISEASE, TYPE II	1
GBA	606463	230800	1q21	IVS2DS, G>A, +1	0015	GAUCHER DISEASE	1
GBA	606463	230800	1q21	LEU444PRO; ALA456PRO; VAL460VAL	0009	GAUCHER DISEASE, TYPE I OR II, DUE TO 'PSEUDOPATTERN' MUTATION	2
GBA	606463	231000	1q21	LEU483PRO (LEU444PRO), 1448T>C	0001	GAUCHER DISEASE, NEURONOPATHIC	10
GBA	606463	231000	1q21	PRO415ARG, 5976C>G	0002	GAUCHER DISEASE, NEURONOPATHIC	1
GBA	606463	230900	1q21	RECOMBINANT (EXON 9)		GAUCHER DISEASE, TYPE II OR III	1
GBA	606463	230800	1q21	VAL394LEU, 1297G>T		GAUCHER DISEASE, TYPE I	1

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