VPS45 Chromosome 1
Vacuolar protein sorting 45 homolog
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What This Gene Does
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Associated Conditions (3)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Inborn genetic diseases
Severe congenital neutropenia
Key Variants
RS1315600520
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS143828923
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS145193116
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS151292369
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Inborn genetic diseases, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS1571825459
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS201637627
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS201955039
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS371572450
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS781997687
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS782431885
Conflicting classifications of pathogenicity
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Inborn genetic diseases, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
RS1131691903
Likely pathogenic
Health Risk
RS782269909
Likely pathogenic
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1315600520 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS143828923 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS145193116 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS151292369 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Inborn genetic diseases, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS1571825459 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS201637627 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS201955039 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS371572450 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS781997687 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS782431885 | Health Risk | Conflicting classifications of pathogenicity | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Inborn genetic diseases, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS1131691903 | Health Risk | Likely pathogenic | — |
| RS782269909 | Health Risk | Likely pathogenic | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| RS879255237 | Health Risk | Pathogenic | Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Severe congenital neutropenia, Congenital neutropenia-myelofibrosis-nephromegaly syndrome |