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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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Last update

21/6/2017

Phenotype: Combined factor V and VIII deficiency

OMIM: 227300
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

LMAN1 || c.IVS9+2T>C

Gene/Locus:	LMAN1
Dna Change:	c.IVS9+2T>C
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 9
Transcript:	NM_005570.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	the island of Djerba	carrier rate of 1.07%	NA	Segal A et al., 2004Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U, . A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.. Blood Coagul. Fibrinolysis. 2004; 15(1):99-102

References

Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U, A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.Blood Coagul. Fibrinolysis. 2004; 15(1):99-102

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Combined factor V and VIII deficiency

References