NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003746282.1
Allele description [Variation Report for NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=)]
NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2 [Ho...
A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2 [Homo sapiens]gi|2462517138|ref|XP_054220837.1|Protein
-
selenocysteine lyase [Homo sapiens]
selenocysteine lyase [Homo sapiens]gi|1418360191|ref|NP_057594.5|Protein
-
601843339F1 NIH_MGC_54 Homo sapiens cDNA clone IMAGE:4064072 5', mRNA sequence
601843339F1 NIH_MGC_54 Homo sapiens cDNA clone IMAGE:4064072 5', mRNA sequencegi|11062646|gnl|dbEST|6617739|gb|BF 4.1|Nucleotide
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Last Updated: Feb 28, 2024