Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Ala4Val (p.A4V)
(
ENST00000651641.1,
ENST00000368530.7,
ENST00000271850.11 )
TPM3 p.Ala4Val (p.A4V) ( ENST00000271850.11, ENST00000368530.7, ENST00000651641.1 ) - Associated Disease
- Congenital myopathy with fiber type disproportion
- Source Database
- ClinVar
- Description
- NM_152263.4(TPM3):c.11C>T (p.Ala4Val) AND Congenital myopathy with fiber type disproportion
- ClinVar Allele ID
- 51279
- ClinVar RefSeq Alternation Syntax
- NR_103460.2:n.93C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364679.2:c.11C>T
- ClinVar RefSeq Alternation Syntax
- NM_152263.4:c.11C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364681.2:c.11C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364682.1:c.11C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364680.2:c.11C>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000034941
- ClinVar Disease
- Congenital myopathy with fiber type disproportion
- Observed Origin Sample
- unknown
Drugs