Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD c.31+1G>T
(
ENST00000288447.9,
ENST00000357033.9 )
DMD c.31+1G>T ( ENST00000288447.9, ENST00000357033.9 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004006.3(DMD):c.31+1G>T AND not provided
- ClinVar Allele ID
- 100454
- ClinVar RefSeq Alternation Syntax
- NM_000109.4:c.7+127978G>T
- ClinVar RefSeq Alternation Syntax
- NM_004006.3:c.31+1G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-05-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000183396
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs