Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Arg168His (p.R168H)
(
ENST00000330188.13,
ENST00000368530.7,
ENST00000302206.9,
ENST00000328159.9,
ENST00000368533.8,
ENST00000323144.12,
ENST00000271850.11,
ENST00000368531.6,
ENST00000611659.5,
ENST00000651641.1 )
TPM3 p.Arg168His (p.R168H) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 ) - Associated Disease
- Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND multiple conditions
- ClinVar Allele ID
- 27489
- ClinVar RefSeq Alternation Syntax
- NM_001043352.2:c.392G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364681.2:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278189.2:c.392G>A
- ClinVar RefSeq Alternation Syntax
- NM_001349679.2:c.392G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364682.1:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NR_103461.2:n.491G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364679.2:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_152263.4:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278190.2:c.392G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364680.2:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_001043353.2:c.392G>A
- ClinVar RefSeq Alternation Syntax
- NM_001043351.2:c.392G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278188.2:c.194G>A
- ClinVar RefSeq Alternation Syntax
- NM_153649.4:c.392G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278191.2:c.122G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364683.1:c.392G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000537032
- ClinVar Disease
- Congenital myopathy 4B, autosomal recessive
- ClinVar Disease
- Congenital myopathy with fiber type disproportion
- Observed Origin Sample
- germline
Drugs