NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND Alzheimer disease 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 17, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000625969.2
Allele description [Variation Report for NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)]
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024