Gene entry
ATP6V0A4
ATPase H+ transporting V0 subunit a4
- Chromosome
- 7
- Cytoband
- 7q34
- Variants (rsID)
- 40
ATP6V0A4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q34). Its official name is “ATPase H+ transporting V0 subunit a4”. The reference table lists 40 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs3807153Benignsingle nucleotide variantAutosomal recessive distal renal tubular acidosis|Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- rs61747674Benignsingle nucleotide variantAutosomal recessive distal renal tubular acidosis
- rs28939081Pathogenicsingle nucleotide variantAutosomal recessive distal renal tubular acidosis|Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- rs121908368Uncertain significancesingle nucleotide variantAutosomal recessive distal renal tubular acidosis|Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- rs267606671Uncertain significancesingle nucleotide variantRenal tubular acidosis, distal, 3, with or without sensorineural hearing loss
Other listed variants
- rs381821
- rs416119
- rs430262
- rs442898
- rs999228
- rs1005082
- rs2122664
- rs3734936
- rs3734939
- rs3778703
- rs3800569
- rs3823499
- rs4728444
- rs6467802
- rs6943456
- rs6952245
- rs6977910
- rs7780678
- rs9770246
- rs10255866
- rs12707395
- rs17442029
- rs36074273
- rs58466323
- rs72611547
- rs73166994
- rs74927512
- rs78046541
- rs117106872
- rs118166287
- rs138079822
- rs144697860
- rs147512254
- rs181626085
- rs190792699
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.