NM_000171.4(GLRA1):c.719C>T (p.Ala240Val) AND Hereditary hyperekplexia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003596806.2
Allele description [Variation Report for NM_000171.4(GLRA1):c.719C>T (p.Ala240Val)]
NM_000171.4(GLRA1):c.719C>T (p.Ala240Val)
Condition(s)
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Aroga velocella]
cytochrome oxidase subunit 1, partial (mitochondrion) [Aroga velocella]gi|1044637259|gb|ANT71362.1|Protein
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Last Updated: Sep 29, 2024