NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000984888.3
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)
- Name:
- Alzheimer disease 3 (AD3)
- Synonyms:
- Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
- Identifiers:
- MONDO: MONDO:0011913; MedGen: C1843013; Orphanet: 1020; OMIM: 607822
- Name:
- Spastic paraparesis
- Identifiers:
- MedGen: C0037771; Human Phenotype Ontology: HP:0002313
Assertion and evidence details
Last Updated: Oct 7, 2023