Annotation Detail
Information
- Associated Genes
- DYSF
- Associated Variants
-
DYSF p.Arg2039Gln (p.R2039Q)
(
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 p.Arg2039Gln (p.R2039Q) ( 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
- Qualitative or quantitative defects of dysferlin
- Source Database
- ClinVar
- Description
- NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) AND Qualitative or quantitative defects of dysferlin
- ClinVar Allele ID
- 272053
- ClinVar RefSeq Alternation Syntax
- NM_001130977.2:c.6020G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130986.2:c.5960G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130985.2:c.6053G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130987.2:c.6116G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130978.2:c.6062G>A
- ClinVar RefSeq Alternation Syntax
- NM_003494.4:c.5999G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130981.2:c.6113G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130983.2:c.6065G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130979.2:c.6092G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130455.2:c.6002G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130984.2:c.6023G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130976.2:c.5957G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130982.2:c.6095G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130980.2:c.6050G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001085395
- ClinVar Disease
- Qualitative or quantitative defects of dysferlin
- Observed Origin Sample
- germline
Drugs