NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs) AND Distal renal tubular acidosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001849706.1
Allele description [Variation Report for NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs)]
NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs)
Condition(s)
- Name:
- Distal renal tubular acidosis
- Identifiers:
- MONDO: MONDO:0015827; MedGen: C1704380; OMIM: PS179800; Human Phenotype Ontology: HP:0008341
Assertion and evidence details
Last Updated: Dec 24, 2023