NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) AND Inborn genetic diseases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 20, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000624507.4
Allele description [Variation Report for NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)]
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Aug 4, 2024