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Last update

21/6/2017

Gene: coagulation factor XII (Hageman factor) ; F12

Gene Symbol: F12
OMIM: 610619
Chromosome location: 5q35.3

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Angioedema, hereditary, type III || c.983C>A

Phenotype:	Angioedema, hereditary, type III
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)

Gene: coagulation factor XII (Hageman factor) ; F12

References