NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr) AND Hereditary hyperekplexia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001056727.7
Allele description [Variation Report for NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr)]
NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024