Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Ser130Leu (p.S130L), PSEN2 p.Ser130Leu (p.S130L)
(
ENST00000366783.8,
ENST00000472139.2,
ENST00000679088.1,
ENST00000677599.1,
ENST00000676945.1,
ENST00000366782.6,
ENST00000626989.3,
ENST00000677414.1,
ENST00000677880.1,
ENST00000422240.6,
ENST00000678320.1 )
ENSG00000288674 p.Ser130Leu (p.S130L), PSEN2 p.Ser130Leu (p.S130L) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- dilated cardiomyopathy 1V
- Source Database
- ClinVar
- Description
- NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) AND Dilated cardiomyopathy 1V
- ClinVar Allele ID
- 23891
- ClinVar RefSeq Alternation Syntax
- NM_012486.3:c.389C>T
- ClinVar RefSeq Alternation Syntax
- NM_000447.3:c.389C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009400
- ClinVar Disease
- Dilated cardiomyopathy 1V
- Observed Origin Sample
- germline
- Pubmed
- 17186461
- Pubmed
- 14623725
Drugs