NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr) AND Alzheimer disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000736246.1
Allele description [Variation Report for NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr)]
NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr)
Condition(s)
- Name:
- Alzheimer disease
- Synonyms:
- Presenile and senile dementia; Alzheimer's disease
- Identifiers:
- MONDO: MONDO:0004975; MeSH: D000544; MedGen: C0002395; Orphanet: 1020; Human Phenotype Ontology: HP:0002511
Assertion and evidence details
Last Updated: Dec 17, 2023
SCV000864543