Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Ser606Leu (p.S606L)
(
ENST00000337571.9,
ENST00000357568.8,
ENST00000397200.8,
ENST00000673978.1,
ENST00000561817.5,
ENST00000674149.1,
ENST00000673692.1,
ENST00000674119.1,
ENST00000318023.11,
ENST00000674139.1,
ENST00000349748.8,
ENST00000674018.1,
ENST00000673936.1,
ENST00000674146.1,
ENST00000673890.1,
ENST00000673750.1,
ENST00000674052.1,
ENST00000397163.8,
ENST00000673928.1,
ENST00000397204.9,
ENST00000673886.1,
ENST00000673851.1,
ENST00000569136.6,
ENST00000673771.1,
ENST00000673743.1,
ENST00000674093.1 )
CAPN3 p.Ser606Leu (p.S606L) ( ENST00000318023.11, ENST00000337571.9, ENST00000349748.8, ENST00000357568.8, ENST00000397163.8, ENST00000397200.8, ENST00000397204.9, ENST00000561817.5, ENST00000569136.6, ENST00000673692.1, ENST00000673743.1, ENST00000673750.1, ENST00000673771.1, ENST00000673851.1, ENST00000673886.1, ENST00000673890.1, ENST00000673928.1, ENST00000673936.1, ENST00000673978.1, ENST00000674018.1, ENST00000674052.1, ENST00000674093.1, ENST00000674119.1, ENST00000674139.1, ENST00000674146.1, ENST00000674149.1 ) - Associated Disease
- autosomal recessive limb-girdle muscular dystrophy type 2A
- Source Database
- ClinVar
- Description
- NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) AND Autosomal recessive limb-girdle muscular dystrophy type 2A
- ClinVar Allele ID
- 273609
- ClinVar RefSeq Alternation Syntax
- NM_000070.3:c.1817C>T
- ClinVar RefSeq Alternation Syntax
- NM_173087.2:c.1639-1076C>T
- ClinVar RefSeq Alternation Syntax
- NM_173089.2:c.-81-1076C>T
- ClinVar RefSeq Alternation Syntax
- NM_173090.2:c.-81-1076C>T
- ClinVar RefSeq Alternation Syntax
- NM_173088.2:c.281C>T
- ClinVar RefSeq Alternation Syntax
- NM_024344.2:c.1799C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-08-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000354372
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2A
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs