Annotation Detail
Information
- Associated Genes
- TPM3
- Associated Variants
-
TPM3 p.Ter286AsnfsTer74 (p.*286Nfs*74)
(
ENST00000611659.5,
ENST00000651641.1,
ENST00000368531.6,
ENST00000302206.9,
ENST00000368533.8,
ENST00000323144.12,
ENST00000368530.7,
ENST00000271850.11,
ENST00000328159.9,
ENST00000330188.13 )
TPM3 p.Ter286AsnfsTer74 (p.*286Nfs*74) ( ENST00000271850.11, ENST00000302206.9, ENST00000323144.12, ENST00000328159.9, ENST00000330188.13, ENST00000368530.7, ENST00000368531.6, ENST00000368533.8, ENST00000611659.5, ENST00000651641.1 ) - Associated Disease
- Congenital myopathy 4B, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) AND Congenital myopathy 4B, autosomal recessive
- ClinVar Allele ID
- 27490
- ClinVar RefSeq Alternation Syntax
- NM_001364681.2:c.775+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001278191.2:c.394+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001043353.2:c.664+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001278188.2:c.466+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001043352.2:c.664+2460del
- ClinVar RefSeq Alternation Syntax
- NM_153649.4:c.664+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001043351.2:c.664+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001364679.2:c.775+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001364682.1:c.855del
- ClinVar RefSeq Alternation Syntax
- NM_152263.4:c.855del
- ClinVar RefSeq Alternation Syntax
- NM_001349679.2:c.743+1365del
- ClinVar RefSeq Alternation Syntax
- NM_001364683.1:c.744del
- ClinVar RefSeq Alternation Syntax
- NM_001278189.2:c.743+1365del
- ClinVar RefSeq Alternation Syntax
- NM_001364680.2:c.775+2460del
- ClinVar RefSeq Alternation Syntax
- NM_001278190.2:c.601+2460del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013266
- ClinVar Disease
- Congenital myopathy 4B, autosomal recessive
- Observed Origin Sample
- germline
- Pubmed
- 18382475
Drugs