HAX1 Chromosome 1
HCLS1 associated protein X-1
Upload your DNA to see your personal genotypes for variants in HAX1.
What This Gene Does
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (9)
Kostmann syndrome
Congenital portosystemic shunt
Inborn genetic diseases
HAX1-related disorder
Severe congenital neutropenia
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Acute myeloid leukemia
Hepatocellular carcinoma
Key Variants
RS121908165
Conflicting classifications of pathogenicity
Kostmann syndrome, Congenital portosystemic shunt, Kostmann syndrome
Health Risk
RS1306497969
Conflicting classifications of pathogenicity
Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome
Health Risk
RS146152769
Conflicting classifications of pathogenicity
Kostmann syndrome, Kostmann syndrome
Health Risk
RS1553289863
Conflicting classifications of pathogenicity
Kostmann syndrome, Kostmann syndrome
Health Risk
RS183456651
Conflicting classifications of pathogenicity
Kostmann syndrome, Kostmann syndrome
Health Risk
RS186219647
Conflicting classifications of pathogenicity
Kostmann syndrome, HAX1-related disorder, Kostmann syndrome
Health Risk
RS368305272
Conflicting classifications of pathogenicity
Kostmann syndrome, Kostmann syndrome
Health Risk
RS377331781
Conflicting classifications of pathogenicity
Kostmann syndrome, Kostmann syndrome
Health Risk
RS753448581
Conflicting classifications of pathogenicity
Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome
Health Risk
RS760377093
Conflicting classifications of pathogenicity
Kostmann syndrome, Kostmann syndrome
Health Risk
RS762492730
Conflicting classifications of pathogenicity
Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome
Health Risk
RS765941497
Conflicting classifications of pathogenicity
Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908165 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Congenital portosystemic shunt, Kostmann syndrome |
| RS1306497969 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome |
| RS146152769 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Kostmann syndrome |
| RS1553289863 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Kostmann syndrome |
| RS183456651 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Kostmann syndrome |
| RS186219647 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, HAX1-related disorder, Kostmann syndrome |
| RS368305272 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Kostmann syndrome |
| RS377331781 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Kostmann syndrome |
| RS753448581 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome |
| RS760377093 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Kostmann syndrome |
| RS762492730 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome |
| RS765941497 | Health Risk | Conflicting classifications of pathogenicity | Kostmann syndrome, Inborn genetic diseases, Kostmann syndrome |
| RS1684901295 | Health Risk | Likely pathogenic | Kostmann syndrome, Kostmann syndrome, Severe congenital neutropenia |
| RS1684904805 | Health Risk | Likely pathogenic | Kostmann syndrome, Kostmann syndrome, Kostmann syndrome |
| RS2149140065 | Health Risk | Likely pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149140690 | Health Risk | Likely pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524933144 | Health Risk | Likely pathogenic | Kostmann syndrome, Kostmann syndrome, Kostmann syndrome |
| RS2524938045 | Health Risk | Likely pathogenic | Severe congenital neutropenia, Severe congenital neutropenia |
| RS371504152 | Health Risk | Likely pathogenic | Kostmann syndrome, Familial cancer of breast, Acute myeloid leukemia |
| RS764765550 | Health Risk | Likely pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS1334392544 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS1392118289 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS1398108109 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS1425877227 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS1487742962 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS1572018284 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS1684899990 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149139493 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149139668 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149139706 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149139793 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149139817 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149139969 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149140056 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2149140495 | Health Risk | Pathogenic | Kostmann syndrome, Hepatocellular carcinoma, Kostmann syndrome |
| RS2524924329 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524924407 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524924781 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524930259 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524930480 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524931096 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524932526 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524933917 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524934196 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS2524937073 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS374758765 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS74315322 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS745666437 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome |
| RS747026228 | Health Risk | Pathogenic | — |
| RS758657008 | Health Risk | Pathogenic | Kostmann syndrome, Kostmann syndrome, Kostmann syndrome |