Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Met233Val (p.M233V)
(
ENST00000700378.1,
ENST00000700324.1,
ENST00000700268.1,
ENST00000700267.1,
ENST00000700322.1,
ENST00000700317.1,
ENST00000324501.10,
ENST00000700321.1,
ENST00000700273.1,
ENST00000700323.1,
ENST00000557293.6,
ENST00000700313.1,
ENST00000700271.1,
ENST00000394164.5,
ENST00000700265.1,
ENST00000700320.1,
ENST00000700469.1,
ENST00000700307.1,
ENST00000700389.1,
ENST00000357710.8,
ENST00000700468.1,
ENST00000700437.1,
ENST00000554131.6,
ENST00000557511.5,
ENST00000700306.1,
ENST00000553599.6,
ENST00000556951.6,
ENST00000700375.1,
ENST00000700312.1,
ENST00000700269.1 )
PSEN1 p.Met233Val (p.M233V) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 ) - Associated Disease
- Alzheimer disease 3 frontotemporal dementia Pick disease Acne inversa, familial, 3
- Source Database
- ClinVar
- Description
- NM_000021.4(PSEN1):c.697A>G (p.Met233Val) AND multiple conditions
- ClinVar Allele ID
- 33880
- ClinVar RefSeq Alternation Syntax
- NM_000021.4:c.697A>G
- ClinVar RefSeq Alternation Syntax
- NM_007318.3:c.685A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-08-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000818883
- ClinVar Disease
- Alzheimer disease 3
- ClinVar Disease
- Pick disease
- ClinVar Disease
- Frontotemporal dementia
- ClinVar Disease
- Acne inversa, familial, 3
- Observed Origin Sample
- germline
Drugs