NM_000171.4(GLRA1):c.1154C>A (p.Ala385Asp) AND Hereditary hyperekplexia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001068362.8
Allele description [Variation Report for NM_000171.4(GLRA1):c.1154C>A (p.Ala385Asp)]
NM_000171.4(GLRA1):c.1154C>A (p.Ala385Asp)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024