Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD c.3432+1G>A
(
ENST00000378677.6,
ENST00000357033.9 )
DMD c.3432+1G>A ( ENST00000357033.9, ENST00000378677.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004006.3(DMD):c.3432+1G>A AND not provided
- ClinVar Allele ID
- 100489
- ClinVar RefSeq Alternation Syntax
- NM_004009.3:c.3420+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_004010.3:c.3063+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000109.4:c.3408+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_004006.3:c.3432+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-09-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000176554
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs