Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD c.1603-6C>T
(
ENST00000288447.9,
ENST00000357033.9,
ENST00000378677.6 )
DMD c.1603-6C>T ( ENST00000288447.9, ENST00000357033.9, ENST00000378677.6 ) - Associated Disease
- cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy
- Source Database
- ClinVar
- Description
- NM_004006.3(DMD):c.1603-6C>T AND multiple conditions
- ClinVar Allele ID
- 491095
- ClinVar RefSeq Alternation Syntax
- NM_000109.4:c.1579-6C>T
- ClinVar RefSeq Alternation Syntax
- NM_004006.3:c.1603-6C>T
- ClinVar RefSeq Alternation Syntax
- NM_004010.3:c.1234-6C>T
- ClinVar RefSeq Alternation Syntax
- NM_004009.3:c.1591-6C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-03-08
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001829653
- ClinVar Disease
- Becker muscular dystrophy
- ClinVar Disease
- Cardiomyopathy
- ClinVar Disease
- Duchenne muscular dystrophy
- ClinVar Disease
- Dystrophin deficiency
- Observed Origin Sample
- germline
Drugs