PhenoModifier-Variant Detail

Variant "F5:c.G1961A(p.Arg509Gln)"

Search result: 1 record

Variant information

Gene:

F5

Variant:

F5:c.G1961A(p.Arg509Gln)

dbSNP ID:

no data

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered gene activity(1)

Detail：

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.