NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001314550.8
Allele description [Variation Report for NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)]
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)
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:
- Frontotemporal dementia (FTD1)
- Synonyms:
- FRONTOTEMPORAL LOBE DEMENTIA; WILHELMSEN-LYNCH DISEASE; Dementia, frontotemporal, with parkinsonism; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017276; MedGen: C0338451; Orphanet: 282; OMIM: 600274; Human Phenotype Ontology: HP:0002145
- Name:
- Pick disease
- Synonyms:
- PICK DISEASE OF BRAIN; LOBAR ATROPHY OF BRAIN; Pick's disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008243; MedGen: C0236642; Orphanet: 282; OMIM: 172700
Assertion and evidence details
Last Updated: Oct 20, 2024