NM_001194.4(HCN2):c.443A>T (p.Glu148Val) AND Febrile seizures, familial, 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003326325.2
Allele description [Variation Report for NM_001194.4(HCN2):c.443A>T (p.Glu148Val)]
NM_001194.4(HCN2):c.443A>T (p.Glu148Val)
Condition(s)
- Name:
- Febrile seizures, familial, 2 (FEB2)
- Synonyms:
- Convulsions, familial febrile, 2
- Identifiers:
- MONDO: MONDO:0011231; MedGen: C1865342
Assertion and evidence details
Last Updated: Jun 29, 2024