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Last update

21/6/2017

Phenotype: Glanzmann thrombasthenia

OMIM: 273800
Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

ITGA2B || c.1544+1G>A

Gene/Locus:	ITGA2B
Dna Change:	c.1544+1G>A
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 15
Transcript:

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	Gypsy	NA	NA	300-400 years ago	Fiore M et al., 2011Fiore M, Pillois X, Nurden P, Nurden AT, Austerlitz F, . Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.. Eur. J. Hum. Genet.. 2011; 19(9):981-7

References

Fiore M, Pillois X, Nurden P, Nurden AT, Austerlitz F, Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.Eur. J. Hum. Genet.. 2011; 19(9):981-7

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Glanzmann thrombasthenia

References