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Last update

21/6/2017

Phenotype: Afibrinogenemia, congenital

OMIM: 134850
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

FGG || c.667-320A>T (IVS6-320A>T)

Gene/Locus:	FGG
Dna Change:	c.667-320A>T (IVS6-320A>T)
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 6
Transcript:	NM_021870.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NorthEastern (Veneto region)	NA	NA	Platè M et al., 2009Platè M, Duga S, Castaman G, Rodeghiero F, Asselta R, . Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto.. Blood Coagul. Fibrinolysis. 2009; 20(5):381-4

References

Platè M, Duga S, Castaman G, Rodeghiero F, Asselta R, Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto.Blood Coagul. Fibrinolysis. 2009; 20(5):381-4

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Afibrinogenemia, congenital

References