NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys) AND Renal tubular acidosis with progressive nerve deafness
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001279887.1
Allele description [Variation Report for NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys)]
NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys)
Condition(s)
- Name:
- Renal tubular acidosis with progressive nerve deafness
- Synonyms:
- RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS; RTA WITH PROGRESSIVE NERVE DEAFNESS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009968; MedGen: C0403554; OMIM: 267300
Assertion and evidence details
Last Updated: Aug 5, 2023