NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) AND Alzheimer disease 3
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002051789.2
Allele description [Variation Report for NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)]
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)
Condition(s)
-
CCDC85C coiled-coil domain containing 85C [Homo sapiens]
CCDC85C coiled-coil domain containing 85C [Homo sapiens]Gene ID:317762Gene
-
Gene Links for GEO Profiles (Select 85043289) (1)
Gene
-
NCI_CGAP_GCB1
NCI_CGAP_GCB1biosample
-
BioSample links for Nucleotide (Select 2789125) (1)
BioSample
-
Gene neighbors for Gene (Select 317762) (84)
Gene
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Last Updated: Oct 8, 2024