FCHO1 Chromosome 19
FCH and mu domain containing endocytic adaptor 1
Upload your DNA to see your personal genotypes for variants in FCHO1.
What This Gene Does
Enables AP-2 adaptor complex binding activity. Involved in several processes, including T cell receptor signaling pathway; clathrin coat assembly; and clathrin-dependent endocytosis. Located in cytosol; nucleoplasm; and plasma membrane. Is active in clathrin-coated pit. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
F-BAR domain containing
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000130475
Associated Conditions (4)
Immunodeficiency 76
FCHO1-related disorder
Severe congenital neutropenia
Immunodeficiency with T and B cell lymphopenia
Key Variants
RS139750085
Conflicting classifications of pathogenicity
Health Risk
RS139967668
Conflicting classifications of pathogenicity
Immunodeficiency 76, Immunodeficiency 76
Health Risk
RS145154295
Conflicting classifications of pathogenicity
Health Risk
RS186812006
Conflicting classifications of pathogenicity
Health Risk
RS202047816
Conflicting classifications of pathogenicity
Health Risk
RS748448687
Conflicting classifications of pathogenicity
Health Risk
RS761640192
Conflicting classifications of pathogenicity
Health Risk
RS2513631162
Likely pathogenic
FCHO1-related disorder, FCHO1-related disorder
Health Risk
RS753935822
Likely pathogenic
Health Risk
RS772008992
Likely pathogenic
Health Risk
RS1336566500
Pathogenic
Severe congenital neutropenia, Immunodeficiency with T and B cell lymphopenia, Severe congenital neutropenia
Health Risk
RS148410831
Pathogenic
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139750085 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139967668 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 76, Immunodeficiency 76 |
| RS145154295 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS186812006 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202047816 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748448687 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761640192 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2513631162 | Health Risk | Likely pathogenic | FCHO1-related disorder, FCHO1-related disorder |
| RS753935822 | Health Risk | Likely pathogenic | — |
| RS772008992 | Health Risk | Likely pathogenic | — |
| RS1336566500 | Health Risk | Pathogenic | Severe congenital neutropenia, Immunodeficiency with T and B cell lymphopenia, Severe congenital neutropenia |
| RS148410831 | Health Risk | Pathogenic | — |
| RS2083028943 | Health Risk | Pathogenic | Immunodeficiency 76, Immunodeficiency 76 |
| RS2086875746 | Health Risk | Pathogenic | Severe congenital neutropenia, Immunodeficiency 76, Severe congenital neutropenia |
| RS2087831882 | Health Risk | Pathogenic | Immunodeficiency 76, Immunodeficiency 76 |
| RS2089298923 | Health Risk | Pathogenic | Severe congenital neutropenia, Immunodeficiency 76, Severe congenital neutropenia |
| RS2091196149 | Health Risk | Pathogenic | Severe congenital neutropenia, Severe congenital neutropenia |
| RS2093571190 | Health Risk | Pathogenic | Severe congenital neutropenia, Immunodeficiency 76, Severe congenital neutropenia |
| RS2147209050 | Health Risk | Pathogenic | — |
| RS2147323888 | Health Risk | Pathogenic | — |
| RS2513888704 | Health Risk | Pathogenic | — |
| RS2514155878 | Health Risk | Pathogenic | — |
| RS2514358325 | Health Risk | Pathogenic | — |
| RS530286781 | Health Risk | Pathogenic | Severe congenital neutropenia, Immunodeficiency 76, Severe congenital neutropenia |