NM_000171.4(GLRA1):c.1273A>G (p.Met425Val) AND Hereditary hyperekplexia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003596743.1
Allele description [Variation Report for NM_000171.4(GLRA1):c.1273A>G (p.Met425Val)]
NM_000171.4(GLRA1):c.1273A>G (p.Met425Val)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024