NM_004211.5(SLC6A5):c.1443A>T (p.Ala481=) AND Hyperekplexia 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002065855.12
Allele description [Variation Report for NM_004211.5(SLC6A5):c.1443A>T (p.Ala481=)]
NM_004211.5(SLC6A5):c.1443A>T (p.Ala481=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 8, 2024