Gene entry
ATP6V0A2
ATPase H+ transporting V0 subunit a2
- Chromosome
- 12
- Cytoband
- 12q24.31
- Variants (rsID)
- 18
ATP6V0A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.31). Its official name is “ATPase H+ transporting V0 subunit a2”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs11837144Benignsingle nucleotide variantCutis laxa with osteodystrophy|Wrinkly skin syndrome|ALG9 congenital disorder of glycosylation
- rs138716143Benignsingle nucleotide variantALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy
- rs17883456Benignsingle nucleotide variantCutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
- rs7135542Benignsingle nucleotide variantCutis laxa with osteodystrophy|Wrinkly skin syndrome|ALG9 congenital disorder of glycosylation
- rs75279884Benignsingle nucleotide variantCutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
- rs80355657Benignsingle nucleotide variantCutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
- rs138886791Conflicting interpretationssingle nucleotide variantALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy
- rs141467923Conflicting interpretationssingle nucleotide variantALG9 congenital disorder of glycosylation
- rs150508296Conflicting interpretationssingle nucleotide variantCutis laxa, recessive|ALG9 congenital disorder of glycosylation
- rs367950442Conflicting interpretationssingle nucleotide variantCutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
- rs374480381Pathogenicsingle nucleotide variant
- rs80356750Pathogenicsingle nucleotide variantCutis laxa with osteodystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.