NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=) AND Autosomal recessive proximal renal tubular acidosis
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001152304.6
Allele description [Variation Report for NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=)]
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=)
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: Feb 1, 2025