PhenoModifier-Variant Detail

Variant "FLG:c.1501C>T(p.Arg501*)"

Search result: 1 record

Variant information

Gene:

FLG

Variant:

FLG:c.1501C>T(p.Arg501*)

Genomic location:

chr1:152285861(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_002016.1:c.1501C>T(p.Arg501*)
pseudogene	NR_103778.1:n.-74G>A

dbSNP ID:

rs61816761

GWAS trait:

allergy,Eczema,asthma,respiratory system disease,sunburn

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered severity(1)

Detail：

Target disease:

Irritant Dermatitis (DOID_2772)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P<0.05

Effect:

FLG mutations seem to be a modifier of the severity of the clinical course in ICD.

Reference:

PMID22962861

Title:

Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy.

Species studied:

Human

Abstract:

Filaggrin loss-of-function mutations and atopy may alter the clinical course of irritant contact dermatitis (ICD).