NM_004211.5(SLC6A5):c.-2A>G AND Hyperekplexia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000291892.5
Allele description [Variation Report for NM_004211.5(SLC6A5):c.-2A>G]
NM_004211.5(SLC6A5):c.-2A>G
Condition(s)
- Name:
- Hyperekplexia
- Identifiers:
- MONDO: MONDO:0017658; MedGen: C0234166
Assertion and evidence details
Last Updated: Jun 10, 2023