NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter) AND Hereditary hyperekplexia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001987384.4
Allele description [Variation Report for NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter)]
NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024