NM_004211.5(SLC6A5):c.1426T>A (p.Phe476Ile) AND Hyperekplexia 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001948801.4
Allele description [Variation Report for NM_004211.5(SLC6A5):c.1426T>A (p.Phe476Ile)]
NM_004211.5(SLC6A5):c.1426T>A (p.Phe476Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024