Factor V Variant Database

Search Results: 2 unique variants retrieved

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

c.6443T>C

p.Met2148Thr (Legacy AA No. 2120)

Variant Type:

Point

Domain:

d5C2

Location:

Exon 24

Variant Effect:

Missense

Codon Change:

6443T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

8629

Allele Number *:

282418

Allele Frequency *:

0.030554

References and Comments:

Al-Numair et al 2019
mild menorrhagia

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
115	NA	N	NA	13	NA	18	NA	Heterozygous	c.1021C>T (p.Arg341Cys)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
130	NA	F	NA	44	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
131	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr)	Al-Numair et al 2019
132	NA	F	NA	32	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	bleeding after invasive procedure, epistaxis, anaemia; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
133	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild bleeding, mild epistaxis and bruising; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
168	NA	N	NA	28	NA	31	NA	Heterozygous	c.1309A>G (p.Asn437Asp)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
675	NA	F	NA	25	NA	26	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Asymptomatic	NA	Paraboschi et al 2012
770	NA	F	NA	44	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
771	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
772	NA	F	NA	32	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	bleeding after procedure, spontaneous epistaxis, anaemia; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
773	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild bleeding symptoms, mild epistaxis; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
774	NA	F	NA	25	NA	26	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Asymptomatic	NA	Paraboschi et al 2012
775	NA	N	NA	40	NA	32	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
776	NA	N	NA	13	NA	18	NA	Heterozygous	c.1021C>T (p.Arg341Cys)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
777	NA	N	NA	28	NA	31	NA	Heterozygous	c.1309A>G (p.Asn437Asp)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
778	NA	B	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Scanavini et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6528+1_+4delGTAG

p.Met2148Ilefs*12 (Legacy AA No. 2120)

Variant Type:

Deletion

Domain:

d5C2

Location:

Intron 24

Variant Effect:

Intronic

Codon Change:

6528+1_+4delGTAG

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Dall'osso et al 2008
muscular, GI, urogenital, and spleen bleeds

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
752	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6305G>A (p.Arg2102His)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008
782	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6305G>A (p.Arg2102His)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Intronic) variant.

Factor X Variant Database

Factor V Gene (F5)

Variant Database

Search Results: 2 unique variants retrieved

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation: