Annotation Detail
Information
- Associated Genes
- DYSF
- Associated Variants
-
DYSF c.5003+1241A>G
(
ENST00000258104.8,
ENST00000394120.6,
ENST00000409366.5,
ENST00000409582.7,
ENST00000409651.5,
ENST00000409744.5,
ENST00000409762.5,
ENST00000410020.8,
ENST00000410041.1,
ENST00000413539.6,
ENST00000429174.6,
ENST00000479049.6,
ENST00000698058.1,
ENST00000698059.1 )
DYSF c.5003+1241A>G ( ENST00000258104.8, ENST00000394120.6, ENST00000409366.5, ENST00000409582.7, ENST00000409651.5, ENST00000409744.5, ENST00000409762.5, ENST00000410020.8, ENST00000410041.1, ENST00000413539.6, ENST00000429174.6, ENST00000479049.6, ENST00000698058.1, ENST00000698059.1 ) - Associated Disease
- DYSF-related disorder
- Source Database
- ClinVar
- Description
- NM_001130987.2(DYSF):c.5003+1241A>G AND DYSF-related disorder
- ClinVar Allele ID
- 3189368
- ClinVar RefSeq Alternation Syntax
- NM_001130979.2:c.4979+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130987.2:c.5003+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130985.2:c.4940+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130976.2:c.4844+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130982.2:c.4982+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130978.2:c.4949+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130981.2:c.5000+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130983.2:c.4952+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130984.2:c.4910+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130977.2:c.4907+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130986.2:c.4847+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_003494.4:c.4886+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130455.2:c.4889+1241A>G
- ClinVar RefSeq Alternation Syntax
- NM_001130980.2:c.4937+1241A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-12-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003896602
- ClinVar Disease
- DYSF-related disorder
- Observed Origin Sample
- germline
Drugs