NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) AND Alzheimer disease 3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 19, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000198517.1
Allele description [Variation Report for NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)]
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023