NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) AND Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001089755.2
Allele description [Variation Report for NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)]
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
Condition(s)
- Name:
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Synonyms:
- Dementia, hereditary multi-infarct type; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
- Identifiers:
- MONDO: MONDO:0000914; MedGen: C4551768; Orphanet: 136; OMIM: 125310
Assertion and evidence details
Last Updated: Aug 4, 2024