Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Gln32Ter (p.Q32*)
(
ENST00000651641.1,
ENST00000368530.7,
ENST00000271850.11 )
TPM3 p.Gln32Ter (p.Q32*) ( ENST00000271850.11, ENST00000368530.7, ENST00000651641.1 ) - Associated Disease
- Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion
- Source Database
- ClinVar
- Description
- NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) AND multiple conditions
- ClinVar Allele ID
- 27488
- ClinVar RefSeq Alternation Syntax
- NM_001364679.2:c.94C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364680.2:c.94C>T
- ClinVar RefSeq Alternation Syntax
- NR_103460.2:n.176C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364681.2:c.94C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364682.1:c.94C>T
- ClinVar RefSeq Alternation Syntax
- NM_152263.4:c.94C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003764563
- ClinVar Disease
- Congenital myopathy 4B, autosomal recessive
- ClinVar Disease
- Congenital myopathy with fiber type disproportion
- Observed Origin Sample
- germline
Drugs