NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) AND Autosomal recessive distal renal tubular acidosis
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000394628.7
Allele description [Variation Report for NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=)]
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=)
Condition(s)
- Name:
- Autosomal recessive distal renal tubular acidosis
- Synonyms:
- RTA, distal, autosomal recessive; Renal tubular acidosis, autosomal recessive with preserved hearing
- Identifiers:
- MONDO: MONDO:0018440; MedGen: C1864498
Assertion and evidence details
Last Updated: Mar 10, 2024