VPS13A Chromosome 9
Vacuolar protein sorting 13 homolog A
Upload your DNA to see your personal genotypes for variants in VPS13A.
What This Gene Does
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Bridge-like lipid transfer protein family
Locus Type
gene with protein product
Location
9q21.2
Ensembl
ENSG00000197969
Associated Conditions (8)
Chorea-acanthocytosis
Inborn genetic diseases
VPS13A-related disorder
Lung cancer
Sarcoma
primray hypomagnesemia with secondary hypocalcemia
Ovarian serous cystadenocarcinoma
Abnormality of the nervous system
Key Variants
RS1057515645
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Chorea-acanthocytosis
Health Risk
RS1057515654
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Chorea-acanthocytosis
Health Risk
RS117320408
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Inborn genetic diseases, Chorea-acanthocytosis
Health Risk
RS1274810899
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Chorea-acanthocytosis
Health Risk
RS1281741862
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Chorea-acanthocytosis
Health Risk
RS1307114004
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1325690140
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Chorea-acanthocytosis
Health Risk
RS138568018
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Inborn genetic diseases, Chorea-acanthocytosis
Health Risk
RS139444683
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139516538
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Chorea-acanthocytosis
Health Risk
RS139817600
Conflicting classifications of pathogenicity
Chorea-acanthocytosis, Chorea-acanthocytosis
Health Risk
RS140238345
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (423)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2538099164 | Health Risk | Likely pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS2538144707 | Health Risk | Likely pathogenic | — |
| RS2538153727 | Health Risk | Likely pathogenic | — |
| RS2538157231 | Health Risk | Likely pathogenic | — |
| RS2538185624 | Health Risk | Likely pathogenic | — |
| RS2538203386 | Health Risk | Likely pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS2538207078 | Health Risk | Likely pathogenic | — |
| RS2538255976 | Health Risk | Likely pathogenic | — |
| RS2538311164 | Health Risk | Likely pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS2538311239 | Health Risk | Likely pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS2538323935 | Health Risk | Likely pathogenic | — |
| RS372141290 | Health Risk | Likely pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS754192137 | Health Risk | Likely pathogenic | — |
| RS764591495 | Health Risk | Likely pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS779075858 | Health Risk | Likely pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1085307750 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1174858706 | Health Risk | Pathogenic | — |
| RS1185750493 | Health Risk | Pathogenic | — |
| RS1191270963 | Health Risk | Pathogenic | — |
| RS1193250444 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS119477052 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS119477053 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1199567737 | Health Risk | Pathogenic | — |
| RS1229489150 | Health Risk | Pathogenic | — |
| RS1236651659 | Health Risk | Pathogenic | — |
| RS1238782647 | Health Risk | Pathogenic | — |
| RS1241810634 | Health Risk | Pathogenic | — |
| RS1251833565 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1286714220 | Health Risk | Pathogenic | — |
| RS1296924903 | Health Risk | Pathogenic | — |
| RS1312264385 | Health Risk | Pathogenic | — |
| RS1340753734 | Health Risk | Pathogenic | — |
| RS1353432136 | Health Risk | Pathogenic | — |
| RS1358293369 | Health Risk | Pathogenic | — |
| RS1369905878 | Health Risk | Pathogenic | — |
| RS1387660387 | Health Risk | Pathogenic | — |
| RS1394368004 | Health Risk | Pathogenic | — |
| RS1406208410 | Health Risk | Pathogenic | — |
| RS1409058629 | Health Risk | Pathogenic | — |
| RS1409849850 | Health Risk | Pathogenic | — |
| RS1417219341 | Health Risk | Pathogenic | — |
| RS1417246536 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1417854249 | Health Risk | Pathogenic | — |
| RS1419127345 | Health Risk | Pathogenic | — |
| RS1447002141 | Health Risk | Pathogenic | — |
| RS1447370088 | Health Risk | Pathogenic | — |
| RS1469144732 | Health Risk | Pathogenic | — |
| RS1475930869 | Health Risk | Pathogenic | — |
| RS148173878 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1485186943 | Health Risk | Pathogenic | Chorea-acanthocytosis, Chorea-acanthocytosis |