PhenoModifier-Variant Detail

Variant "CFTR:c.3194T>G(p.Leu1065Arg)"

Search result: 1 record

Variant information

Gene:

CFTR

Variant:

CFTR:c.3194T>G(p.Leu1065Arg)

Genomic location:

chr7:117251689(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_000492.3:c.3194T>G(p.Leu1065Arg)

dbSNP ID:

rs121909036

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Target disease:

Cystic fibrosis (DOID_1485)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

Genetic modifiers of CF-associated liver disease

Reference:

PMID20955961

Title:

Cystic fibrosis-associated liver disease.

Species studied:

Human

Abstract:

Liver disease is increasingly common in cystic fibrosis (CF). As new therapeutic options emerge, life expectancy increases and common hepatobiliary manifestations impact on quality of life and survival of CF patients. Hepatobiliary abnormalities in CF vary in nature and range from defects attributable to the underlying CFTR gene defect to those related to systemic disease and malnutrition. Today complications of liver disease represent the third most frequent cause of disease-related death in patients with CF. Here we review molecular and clinical genetics of CF, including genetic modifiers of CF-associated liver disease, and provide practical recommendations for genetic testing, diagnosis and treatment of hepatobiliary manifestations in CF.