NM_000484.3(APP):c.2143G>A (p.Val715Met) AND Alzheimer disease, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 1999
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019724.27
Allele description
NM_000484.3(APP):c.2143G>A (p.Val715Met)
Condition(s)
- Name:
- Alzheimer disease, type 1 (AD1)
- Synonyms:
- ALZHEIMER DISEASE, FAMILIAL, 1
- Identifiers:
- MedGen: C1863052
Assertion and evidence details
Last Updated: Sep 6, 2017