NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) AND Alzheimer disease 3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002051789.2
Allele description [Variation Report for NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)]
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024