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Factor IX Gene (F9) Variant Database

F9

Search Results: 1 unique variants retrieved.

c.19A>T

p.(Ile7Phe) Legacy AA -40

Variant Type:

Point

Domain:

Signal Peptide

cDNA number:

19

Variant Effect:

Missense

Location:

Exon(1)

CpG:

N

No. of cases reported:

4

No. of bases:

1

Allele Frequency (MAF):

0.0009016

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
87	<1	<1		Severe	-			-	Centre B8 (unpublished)
88	30	-		Mild	-		Spain	-	Montejo et al (1999)
89	-	-			-		Germany	-	Wulff et al (2001)
3428	<1	<1		Severe	-		Canada	Also has p.Arg384* causative mutation	Poon et al (1993)