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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: Factor X deficiency

OMIM: 227600
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

F10 || g.8409T>C

Gene/Locus:	F10
Dna Change:	g.8409T>C
Protein Change:	p.Phe31Ser
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000504.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	Kabyle	NA	5 families/8 families	NA	Akhavan S et al., 2007Akhavan S, Chafa O, Obame FN, Torchet MF, Reghis A, Fischer AM, Tapon-Bretaudière J, . Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect?. Eur. J. Haematol.. 2007; 78(5):405-9

References

Akhavan S, Chafa O, Obame FN, Torchet MF, Reghis A, Fischer AM, Tapon-Bretaudière J, Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect?Eur. J. Haematol.. 2007; 78(5):405-9

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Factor X deficiency

References