ATP6V1C2:Ensemblv90

ATPase H+ transporting V1 subunit C2
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red ATP6V1C2 in Mendeliome


Version 1.3802

1 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 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • 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 2.0

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