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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

Gene: coagulation factor IX; F9

Gene Symbol: F9
OMIM: 300746
Chromosome location: Xq27.1

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

Hemophilia B || c.572G>A

Phenotype:	Hemophilia B
Dna Change:	c.572G>A
Protein Change:	p.Arg191His (Arg145His)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_000133.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	Rhone Alpes	11%	NA	Attali O et al., 1999Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C, . Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.. Thromb. Haemost.. 1999; 82(5):1437-42

Hemophilia B || c.697G>A

Phenotype:	Hemophilia B
Dna Change:	c.697G>A
Protein Change:	p.Ala233Thr
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_000133.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	Rhone Alpes	19%	NA	Attali O et al., 1999Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C, . Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.. Thromb. Haemost.. 1999; 82(5):1437-42

References

Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C, Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.Thromb. Haemost.. 1999; 82(5):1437-42

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: coagulation factor IX; F9

References