NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp) AND Seizure
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001255101.1
Allele description [Variation Report for NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)]
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)
Condition(s)
- Name:
- Seizure
- Synonyms:
- Seizures
- Identifiers:
- MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Assertion and evidence details
Last Updated: Apr 23, 2022