NM_000744.7(CHRNA4):c.819G>A (p.Glu273=) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003746232.1
Allele description [Variation Report for NM_000744.7(CHRNA4):c.819G>A (p.Glu273=)]
NM_000744.7(CHRNA4):c.819G>A (p.Glu273=)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
tetratricopeptide repeat protein 7B isoform X1 [Bos taurus]
tetratricopeptide repeat protein 7B isoform X1 [Bos taurus]gi|2587625049|ref|XP_059746954.1|Protein
-
ataxin-3 isoform ad [Homo sapiens]
ataxin-3 isoform ad [Homo sapiens]gi|189163493|ref|NP_001121168.1|Protein
-
txid1587246[Organism:noexp] (11)
PMC
-
Taxonomy Links for Protein (Select 1049300953) (1)
Taxonomy
-
dro6 protein [Drosophila melanogaster]
dro6 protein [Drosophila melanogaster]gi|83999015|emb|CAI77099.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024