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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Gaucher disease, type I

OMIM: 230800
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

GBA || c.1226A>G

Gene/Locus:	GBA
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)

Phenotype: Gaucher disease, type I

References