Phenotype: Afibrinogenemia, congenital


OMIM: 134850
Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

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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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANorthEastern (Veneto region)NANAPlatè 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