NM_001739.2(CA5A):c.720C>A (p.Thr240=) AND Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001456834.6
Allele description [Variation Report for NM_001739.2(CA5A):c.720C>A (p.Thr240=)]
NM_001739.2(CA5A):c.720C>A (p.Thr240=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024