ATP6V1C2

ATPase H+ transporting V1 subunit C2
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ATP6V1C2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Distal renal tubular acidosis

Red ATP6V1C2 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Expert Review Red
    • Literature
    Phenotypes
    • Distal renal tubular acidosis