NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) AND Autosomal recessive proximal renal tubular acidosis
- Germline classification:
- Conflicting classifications of pathogenicity (2 submissions)
- Last evaluated:
- Nov 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001152303.8
Allele description [Variation Report for NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)]
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)
Condition(s)
- Name:
- Autosomal recessive proximal renal tubular acidosis (PRTAO)
- Synonyms:
- RTA, PROXIMAL, AUTOSOMAL RECESSIVE; RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION; RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011422; MedGen: C1970309; OMIM: 604278
Assertion and evidence details
Last Updated: Jan 19, 2025