Factor V Variant Database

Search Results: 1 unique variant retrieved.

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

c.6528G>C

p.Lys2176Asn (Legacy AA No. 2148)

Variant Type:

Point

Domain:

d5C2

Location:

Exon 24

Variant Effect:

Missense

Codon Change:

6528G>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2019
knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
11	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>A (NA)c.5789G>A (p.Gly1930Asp)	Moderate	ecchymoses; surgery for cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two pregnancies, both with premature delivery, and in one case post-delivery bleeding (two days after the event; no treatment)	Paraboschi et al 2019
686	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>A (NA)c.5789G>A (p.Gly1930Asp)	Moderate	knee cyst removal caused bleeding and anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
781	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>A (NA)c.5789G>A (p.Gly1930Asp)	Moderate	knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019

Structural Interpretation:

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Factor X Variant Database

Factor V Gene (F5)

Variant Database

Search Results: 1 unique variant retrieved.

References and Comments:

Patient Information: Show

Structural Interpretation: