Approved symbol | ATP6V1A |
---|---|
Approved name | ATPase H+ transporting V1 subunit A |
HGCN ID | HGNC:851 |
Previous symbols | VPP2, ATP6A1, ATP6V1A1 |
Inheritance | |
OMIM | 607027 |
Chromosome | 3q13.31 |
Panel(s) |
NGS Cutis laxa and related disorders NGS Intellectual disability NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |