VPS13A

VPS13A

vacuolar protein sorting 13 homolog A

HCNC Approved Symbol: VPS13A (HGNC:1908)
Genomic Coordinates: 9:77,177,534 - 77,421,537 (9q21.2)
Synonyms: KIAA0986, BLTP5A, CHAC
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3billion 유전진단 검사 알아보기

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the VPS13A gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

01
Patient count

Progressive neurologic deterioration: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Type 2 diabetes: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30