MFMD

Search

Browse the database

By Disease
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]

By Gene
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: Angioedema, hereditary, type III

OMIM: 610618
Inheritance: Autosomal dominant
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

F12 || c.983C>A

Gene/Locus:	F12
Dna Change:	c.983C>A
Protein Change:	p.Thr328Lys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 9
Transcript:	NM_000505.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	4 families	NA	Firinu D et al., 2015Firinu D, Bafunno V, Vecchione G, Barca MP, Manconi PE, Santacroce R, Margaglione M, Del Giacco SR, . Characterization of patients with angioedema without wheals: The importance of F12 gene screening.. Clin. Immunol.. 2015; 0(0):

References

Firinu D, Bafunno V, Vecchione G, Barca MP, Manconi PE, Santacroce R, Margaglione M, Del Giacco SR, Characterization of patients with angioedema without wheals: The importance of F12 gene screening.Clin. Immunol.. 2015; 0(0):

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Angioedema, hereditary, type III

References