Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Arg278Thr (p.R278T)
(
ENST00000357710.8,
ENST00000700324.1,
ENST00000557511.5,
ENST00000700268.1,
ENST00000700437.1,
ENST00000554131.6,
ENST00000700468.1,
ENST00000700306.1,
ENST00000700375.1,
ENST00000556951.6,
ENST00000553599.6,
ENST00000700312.1,
ENST00000700267.1,
ENST00000700269.1,
ENST00000700322.1,
ENST00000324501.10,
ENST00000700317.1,
ENST00000700273.1,
ENST00000700321.1,
ENST00000700313.1,
ENST00000557293.6,
ENST00000700323.1,
ENST00000700320.1,
ENST00000700265.1,
ENST00000700378.1,
ENST00000394164.5,
ENST00000700271.1,
ENST00000700389.1,
ENST00000700307.1,
ENST00000700469.1 )
PSEN1 p.Arg278Thr (p.R278T) ( 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 ) - Source Database
- ClinVar
- Description
- NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr) AND Abnormality of the nervous system
- ClinVar Allele ID
- 33178
- ClinVar RefSeq Alternation Syntax
- NM_000021.4:c.833G>C
- ClinVar RefSeq Alternation Syntax
- NM_007318.3:c.821G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001814004
- Observed Origin Sample
- de novo
Drugs