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Last update

21/6/2017

Gene: integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41); ITGA2B

Gene Symbol: ITGA2B
OMIM: 607759
Chromosome location: 17q21.31

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

Glanzmann thrombasthenia || c.1544+1G>A

Phenotype:	Glanzmann thrombasthenia
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)

Gene: integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41); ITGA2B

References