Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Leu100Met (p.L100M)
(
ENST00000651641.1,
ENST00000611659.5,
ENST00000368533.8,
ENST00000368531.6,
ENST00000302206.9,
ENST00000323144.12,
ENST00000330188.13,
ENST00000328159.9,
ENST00000271850.11,
ENST00000368530.7 )
TPM3 p.Leu100Met (p.L100M) ( 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
- Source Database
- ClinVar
- Description
- NM_152263.4(TPM3):c.298C>A (p.Leu100Met) AND Congenital myopathy with fiber type disproportion
- ClinVar Allele ID
- 27491
- ClinVar RefSeq Alternation Syntax
- NM_001043353.2:c.187C>A
- ClinVar RefSeq Alternation Syntax
- NM_001278190.2:c.187C>A
- ClinVar RefSeq Alternation Syntax
- NM_001364681.2:c.298C>A
- ClinVar RefSeq Alternation Syntax
- NM_001043351.2:c.187C>A
- ClinVar RefSeq Alternation Syntax
- NM_001278189.2:c.187C>A
- ClinVar RefSeq Alternation Syntax
- NR_103461.2:n.286C>A
- ClinVar RefSeq Alternation Syntax
- NM_001364682.1:c.298C>A
- ClinVar RefSeq Alternation Syntax
- NM_001364679.2:c.298C>A
- ClinVar RefSeq Alternation Syntax
- NM_152263.4:c.298C>A
- ClinVar RefSeq Alternation Syntax
- NM_001043352.2:c.187C>A
- ClinVar RefSeq Alternation Syntax
- NM_001349679.2:c.187C>A
- ClinVar RefSeq Alternation Syntax
- NM_001278191.2:c.-84C>A
- ClinVar RefSeq Alternation Syntax
- NM_001278188.2:c.69-2993C>A
- ClinVar RefSeq Alternation Syntax
- NM_001364680.2:c.298C>A
- ClinVar RefSeq Alternation Syntax
- NM_153649.4:c.187C>A
- ClinVar RefSeq Alternation Syntax
- NM_001364683.1:c.187C>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013267
- ClinVar Disease
- Congenital myopathy with fiber type disproportion
- Observed Origin Sample
- unknown
Drugs