NM_004519.4(KCNQ3):c.*6282A>T AND Benign neonatal seizures
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000310129.5
Allele description [Variation Report for NM_004519.4(KCNQ3):c.*6282A>T]
NM_004519.4(KCNQ3):c.*6282A>T
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
-
receptor-type tyrosine-protein phosphatase beta isoform d precursor [Homo sapien...
receptor-type tyrosine-protein phosphatase beta isoform d precursor [Homo sapiens]gi|332801001|ref|NP_001193901.1|Protein
-
Mus musculus phenylalanyl-tRNA synthetase, alpha subunit (Farsa), transcript var...
Mus musculus phenylalanyl-tRNA synthetase, alpha subunit (Farsa), transcript variant 2, non-coding RNAgi|1315144681|ref|NR_152751.1|Nucleotide
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Last Updated: Sep 29, 2024