NM_000748.3(CHRNB2):c.726C>T (p.Ile242=) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003746932.2
Allele description [Variation Report for NM_000748.3(CHRNB2):c.726C>T (p.Ile242=)]
NM_000748.3(CHRNB2):c.726C>T (p.Ile242=)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
Mus musculus BAC clone RP24-259F16 from chromosome 13, complete sequence
Mus musculus BAC clone RP24-259F16 from chromosome 13, complete sequencegi|73745965|gb|AC154171.5||gnl|wugs 4-259F16Nucleotide
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Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, c...
Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, clone:A230079H13 product:unclassifiable, full insert sequencegi|26086863|dbj|AK038964.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024