NM_000484.4(APP):c.1795G>A (p.Glu599Lys) AND Alzheimer disease
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001079081.12
Allele description [Variation Report for NM_000484.4(APP):c.1795G>A (p.Glu599Lys)]
NM_000484.4(APP):c.1795G>A (p.Glu599Lys)
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: May 12, 2024