NM_004519.4(KCNQ3):c.865G>A (p.Val289Met) AND Benign neonatal seizures
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002653363.3
Allele description [Variation Report for NM_004519.4(KCNQ3):c.865G>A (p.Val289Met)]
NM_004519.4(KCNQ3):c.865G>A (p.Val289Met)
Condition(s)
- Name:
- Benign neonatal seizures
- Synonyms:
- Benign familial neonatal seizures; Convulsions benign familial neonatal dominant form; Autosomal dominant form of benign neonatal seizures; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016027; MedGen: C0220669; Orphanet: 1949; OMIM: PS121200
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7f84d12.x1 NCI_CGAP_Pr28 Homo sapiens cDNA clone IMAGE:3303671 3' similar to TR:...
7f84d12.x1 NCI_CGAP_Pr28 Homo sapiens cDNA clone IMAGE:3303671 3' similar to TR:O43633 O43633 BC-2 PROTEIN, mRNA sequencegi|10369527|gnl|dbEST|6184450|gb|BE 1.1|Nucleotide
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603198972F1 NIH_MGC_96 Homo sapiens cDNA clone IMAGE:5278696 5', mRNA sequence
603198972F1 NIH_MGC_96 Homo sapiens cDNA clone IMAGE:5278696 5', mRNA sequencegi|15248634|gnl|dbEST|9252089|gb|BI 8.1|Nucleotide
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nlk2 [Megalobrama amblycephala]
nlk2 [Megalobrama amblycephala]Gene ID:125249494Gene
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Last Updated: Sep 29, 2024