Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES c.735+1G>C
(
ENST00000373960.4 )
DES c.735+1G>C ( ENST00000373960.4 ) - Associated Disease
- Desmin-related myofibrillar myopathy
- Source Database
- ClinVar
- Description
- NM_001927.4(DES):c.735+1G>C AND Desmin-related myofibrillar myopathy
- ClinVar Allele ID
- 173632
- ClinVar RefSeq Alternation Syntax
- NM_001382708.1:c.732+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382709.1:c.735+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382713.1:c.496-178G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382711.1:c.735+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382712.1:c.735+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001927.4:c.735+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382710.1:c.735+1G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-03-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002265627
- ClinVar Disease
- Desmin-related myofibrillar myopathy
- Observed Origin Sample
- germline
Drugs