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
not provided
Source Database
ClinVar
Description
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) AND not provided
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
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000128709
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs