Annotation Detail
Information
- Associated Genes
- TTN TTN-AS1 LOC126806422 LOC126806423 LOC126806424 LOC126806425 LOC126806426 LOC126806427 LOC129388955
- Associated Variants
- GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
- Associated Disease
- dilated cardiomyopathy 1G
- Source Database
- ClinVar
- Description
- GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1 AND Dilated cardiomyopathy 1G
- ClinVar Allele ID
- 2744225
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003327626
- ClinVar Disease
- Dilated cardiomyopathy 1G
- Observed Origin Sample
- de novo
Drugs