Factor X Variant Database

Terms with a '*' next to them are explained on the Help Page .

c.128C>G

p.Ser43Cys (Legacy AA No. 3)

Variant Type:

Point

Domain:

Gla domain

Location:

Exon 2

Variant Effect:

Missense

Codon Change:

C>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Menegatti et al 2004

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
100	38	M	Iranian	10	42	Homozygous	Not Reported	Severe bleeding symptoms (muscle hematomas, gastrointestinal hemorrhages). Mild FX deficiency and severe FVII deficiency. Related to pa_id:101, 102 &103.	Menegatti et al 2004
101	24	F	Iranian	19	54	Homozygous	Not Reported	Severe bleeding symptoms (epistaxis and menorrhagia). Mild FX deficiency and severe FVII deficiency. Related to pa_id: 100, 102 & 103.	Menegatti et al 2004
102		M	Iranian	75	83	Heterozygous	Not Reported	Related to pa_id: 100 & 101.	Menegatti et al 2004
103		F	Iranian	56	67	Heterozygous	Not Reported	Related to pa_id: 100 & 101.	Menegatti et al 2004

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Factor X Variant Database

Factor X Gene (F10)