NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002479349.1
Allele description [Variation Report for NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)]
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)
Condition(s)
- Name:
- Generalized epilepsy with febrile seizures plus, type 1 (GEFSP1)
- Synonyms:
- GEFS+, TYPE 1
- Identifiers:
- MONDO: MONDO:0011416; MedGen: C1858672; Orphanet: 36387; OMIM: 604233
- Name:
- Brugada syndrome 5 (BRGDA5)
- Identifiers:
- MONDO: MONDO:0013015; MedGen: C2748541; Orphanet: 130; Orphanet: 871; OMIM: 612838
Assertion and evidence details
Last Updated: Sep 29, 2024