NM_001098484.3(SLC4A4):c.2243T>C (p.Val748Ala) AND Autosomal recessive proximal renal tubular acidosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000297189.5
Allele description [Variation Report for NM_001098484.3(SLC4A4):c.2243T>C (p.Val748Ala)]
NM_001098484.3(SLC4A4):c.2243T>C (p.Val748Ala)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024