NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) AND Autosomal dominant hypocalcemia 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253113.1
Allele description [Variation Report for NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)]
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024