Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Met146Ile (p.M146I)
(
ENST00000700269.1,
ENST00000700267.1,
ENST00000700312.1,
ENST00000553599.6,
ENST00000556951.6,
ENST00000700375.1,
ENST00000394157.7,
ENST00000700306.1,
ENST00000700468.1,
ENST00000700268.1,
ENST00000700437.1,
ENST00000554131.6,
ENST00000557511.5,
ENST00000357710.8,
ENST00000700324.1,
ENST00000700469.1,
ENST00000700307.1,
ENST00000700389.1,
ENST00000700271.1,
ENST00000700378.1,
ENST00000394164.5,
ENST00000700265.1,
ENST00000700320.1,
ENST00000700431.1,
ENST00000700323.1,
ENST00000557293.6,
ENST00000700313.1,
ENST00000700321.1,
ENST00000700273.1,
ENST00000700317.1,
ENST00000324501.10,
ENST00000700322.1 )
PSEN1 p.Met146Ile (p.M146I) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, 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, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 ) - Associated Disease
- Alzheimer disease 3
- Source Database
- ClinVar
- Description
- NM_000021.4(PSEN1):c.438G>A (p.Met146Ile) AND Alzheimer disease 3
- ClinVar Allele ID
- 33176
- ClinVar RefSeq Alternation Syntax
- NM_000021.4:c.438G>A
- ClinVar RefSeq Alternation Syntax
- NM_007318.3:c.426G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019767
- ClinVar Disease
- Alzheimer disease 3
- Observed Origin Sample
- germline
- Pubmed
- 9544835
- Pubmed
- 9007311
Drugs