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Gene entry

ATP6V1B1

ATPase H+ transporting V1 subunit B1

Chromosome
2
Cytoband
2p13.3
Variants (rsID)
23

ATP6V1B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p13.3). Its official name is “ATPase H+ transporting V1 subunit B1”. The reference table lists 23 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs11681642Benignsingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs117826071Benignsingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs147250093Benignsingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs17720303Benignsingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs114234874Conflicting interpretationssingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs142905621Conflicting interpretationssingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs145735762Conflicting interpretationssingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs147576439Conflicting interpretationssingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs376581983Conflicting interpretationssingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs527738649Conflicting interpretationssingle nucleotide variantRenal tubular acidosis with progressive nerve deafness
  • rs121964881Pathogenicsingle nucleotide variantRenal tubular acidosis with progressive nerve deafness|Inborn genetic diseases

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.