NM_000748.3(CHRNB2):c.669C>T (p.Asp223=) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000936727.8
Allele description [Variation Report for NM_000748.3(CHRNB2):c.669C>T (p.Asp223=)]
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
ENSANGP00000011028, partial [Anopheles gambiae str. PEST]
ENSANGP00000011028, partial [Anopheles gambiae str. PEST]gi|31208673|ref|XP_313303.1|Protein
-
LOC106055666 [Biomphalaria glabrata]
LOC106055666 [Biomphalaria glabrata]Gene ID:106055666Gene
-
LOC106055670 [Biomphalaria glabrata]
LOC106055670 [Biomphalaria glabrata]Gene ID:106055670Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024