PhenoModifier-Gene Detail

Gene "F5"

Found 2 records

Gene information

Gene symbol:

See related:

Ensembl: ENSG00000198734, Gene ID: 2153

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(2)

Modifier effect:

Altered gene activity(1) ,Altered plasma prothrombin level(1)

Details：

Variant 1:

F5:c.G1961A(p.Arg509Gln)

Gene:

F5

Genomic location:

dbSNP ID:

Target disease:

Hemophilia B(DOID_12259)

Effect type:

Expressivity

Modifier effect:

Altered gene activity

Evidence:

From review article

Effect:

These variants in haemophiliacs constitutes an important step in prevention, prognosis and therapeutic alternatives of the disease.

Reference:

PMID12010419

Title:

Modifier genes in haemophilia: their expansion in the human genome.

Species studied:

Human

Abstract:

Mutations in factor VIII and IX genes have a determinant effect on the severity of haemophilia. Modulation of clinical manifestations depends on other genetic factors, including modifier genes. In the context of haemophilia, such genes could be the ones involved in thrombophilia. Factor V Leiden and prothrombin 20210A were studied as possible phenotypic modifiers. Inhibitor development after therapeutic factor replacement depends on the type of mutation and on the genetic factors related to the immune response of each patient. The study of all these variants in haemophiliacs constitutes an important step in prevention, prognosis and therapeutic alternatives of the disease.
Variant 2:

F5:c.20210A

Gene:

F5

Genomic location:

dbSNP ID:

Target disease:

Hemophilia B(DOID_12259)

Effect type:

Expressivity

Modifier effect:

Altered plasma prothrombin level

Evidence:

From review article

Effect:

This variant, which was first described in 1996, was found to be linked to elevated plasma prothrombin levels and with a moderately increased risk for first venous thrombotic events

Reference:

PMID12010419

Title:

Modifier genes in haemophilia: their expansion in the human genome.

Species studied:

Human

Abstract:

Mutations in factor VIII and IX genes have a determinant effect on the severity of haemophilia. Modulation of clinical manifestations depends on other genetic factors, including modifier genes. In the context of haemophilia, such genes could be the ones involved in thrombophilia. Factor V Leiden and prothrombin 20210A were studied as possible phenotypic modifiers. Inhibitor development after therapeutic factor replacement depends on the type of mutation and on the genetic factors related to the immune response of each patient. The study of all these variants in haemophiliacs constitutes an important step in prevention, prognosis and therapeutic alternatives of the disease.