NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) AND Developmental and epileptic encephalopathy, 52
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004725020.1
Allele description [Variation Report for NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)]
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)
Condition(s)
-
Cuticle collagen sqt-1 [Caenorhabditis elegans]
Cuticle collagen sqt-1 [Caenorhabditis elegans]gi|1845972962|ref|NP_001369874.1|Protein
-
lev-8 AcetylCholine Receptor [Caenorhabditis elegans]
lev-8 AcetylCholine Receptor [Caenorhabditis elegans]Gene ID:191600Gene
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See more...Assertion and evidence details
Last Updated: Nov 10, 2024