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Last update

21/6/2017

Gene: glucosidase, beta, acid; GBA

Gene Symbol: GBA
OMIM: 606463
Chromosome location: 1q22

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Gaucher disease, type I || c.1226A>G

Phenotype:	Gaucher disease, type I
Dna Change:	c.1226A>G
Protein Change:	p.Asn409Ser (N370S)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 10
Transcript:	NM_001005741.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	NA	NA	Filocamo M et al., 2000Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R, . Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.. Blood Cells Mol. Dis.. 2000; 26(4):307-11

References

Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R, Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.Blood Cells Mol. Dis.. 2000; 26(4):307-11

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: glucosidase, beta, acid; GBA

References