NM_000342.4(SLC4A1):c.*1305G>A AND Autosomal dominant distal renal tubular acidosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001128593.4
Allele description [Variation Report for NM_000342.4(SLC4A1):c.*1305G>A]
NM_000342.4(SLC4A1):c.*1305G>A
Condition(s)
- Name:
- Autosomal dominant distal renal tubular acidosis (DRTA1)
- Synonyms:
- RTA, classic type; RTA, gradient type; Renal tubular acidosis 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008368; MedGen: CN280572; OMIM: 179800
Assertion and evidence details
Last Updated: Mar 30, 2024