WIPF1 Chromosome 2
WAS/WASL interacting protein family member 1
Upload your DNA to see your personal genotypes for variants in WIPF1.
What This Gene Does
This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
Wiskott-Aldrich syndrome 2
Inborn genetic diseases
WIPF1-related disorder
Key Variants
RS138276021
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome 2, Inborn genetic diseases, WIPF1-related disorder
Health Risk
RS141730361
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome 2, Inborn genetic diseases, Wiskott-Aldrich syndrome 2
Health Risk
RS148175242
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
Health Risk
RS149434153
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome 2, WIPF1-related disorder, Wiskott-Aldrich syndrome 2
Health Risk
RS753915750
Conflicting classifications of pathogenicity
Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
Health Risk
RS1574785867
Pathogenic
Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
Health Risk
RS1684878263
Pathogenic
Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
Health Risk
RS2468475708
Pathogenic
Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138276021 | Health Risk | Conflicting classifications of pathogenicity | Wiskott-Aldrich syndrome 2, Inborn genetic diseases, WIPF1-related disorder |
| RS141730361 | Health Risk | Conflicting classifications of pathogenicity | Wiskott-Aldrich syndrome 2, Inborn genetic diseases, Wiskott-Aldrich syndrome 2 |
| RS148175242 | Health Risk | Conflicting classifications of pathogenicity | Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2 |
| RS149434153 | Health Risk | Conflicting classifications of pathogenicity | Wiskott-Aldrich syndrome 2, WIPF1-related disorder, Wiskott-Aldrich syndrome 2 |
| RS753915750 | Health Risk | Conflicting classifications of pathogenicity | Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2 |
| RS1574785867 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2 |
| RS1684878263 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2 |
| RS2468475708 | Health Risk | Pathogenic | Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2 |