NM_004519.4(KCNQ3):c.933+12C>T AND Benign neonatal seizures
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002066654.5
Allele description [Variation Report for NM_004519.4(KCNQ3):c.933+12C>T]
NM_004519.4(KCNQ3):c.933+12C>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
-
transcription factor E2F7 isoform X1 [Acinonyx jubatus]
transcription factor E2F7 isoform X1 [Acinonyx jubatus]gi|961717852|ref|XP_014919133.1|Protein
-
NAD(+) hydrolase SARM1 [Cavia porcellus]
NAD(+) hydrolase SARM1 [Cavia porcellus]gi|2687667314|ref|XP_063107254.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024