Annotation Detail
Information
- Associated Genes
- AKAP9
- Associated Variants
-
AKAP9 p.Met463Ile (p.M463I)
(
ENST00000356239.8,
ENST00000359028.7,
ENST00000679521.1,
ENST00000679821.1,
ENST00000680072.1,
ENST00000680181.1,
ENST00000680513.1,
ENST00000680534.1,
ENST00000680766.1,
ENST00000680952.1,
ENST00000681412.1,
ENST00000681722.1 )
AKAP9 p.Met463Ile (p.M463I) ( ENST00000356239.8, ENST00000359028.7, ENST00000679521.1, ENST00000679821.1, ENST00000680072.1, ENST00000680181.1, ENST00000680513.1, ENST00000680534.1, ENST00000680766.1, ENST00000680952.1, ENST00000681412.1, ENST00000681722.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) AND Long QT syndrome
- ClinVar Allele ID
- 140050
- ClinVar RefSeq Alternation Syntax
- NM_005751.5:c.1389G>T
- ClinVar RefSeq Alternation Syntax
- NM_147185.3:c.1389G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000350947
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs