NM_001098484.3(SLC4A4):c.*3080T>C AND Autosomal recessive proximal renal tubular acidosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000326119.5
Allele description [Variation Report for NM_001098484.3(SLC4A4):c.*3080T>C]
NM_001098484.3(SLC4A4):c.*3080T>C
Condition(s)
- Name:
- Autosomal recessive proximal renal tubular acidosis (PRTAO)
- Synonyms:
- RTA, PROXIMAL, AUTOSOMAL RECESSIVE; RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; PROXIMAL RENAL TUBULAR ACIDOSIS-OCULAR ANOMALY SYNDROME
- Identifiers:
- MONDO: MONDO:0011422; MedGen: C1970309; OMIM: 604278
Assertion and evidence details
Last Updated: Jun 23, 2024