Annotation Detail

Information
Associated Genes
TPM1
Associated Variants
TPM1 p.Asp261Asn (p.D261N) ( ENST00000651577.1, ENST00000714013.1, ENST00000357980.9, ENST00000714014.1, ENST00000559397.6, ENST00000559281.6, ENST00000404484.9, ENST00000403994.9, ENST00000288398.10, ENST00000651704.1, ENST00000560615.6, ENST00000560959.5, ENST00000559556.5, ENST00000358278.7, ENST00000561266.6, ENST00000317516.12, ENST00000267996.11, ENST00000714017.1, ENST00000334895.10, ENST00000558910.3, ENST00000560970.6 )
TPM1 p.Asp261Asn (p.D261N) ( ENST00000267996.11, ENST00000288398.10, ENST00000317516.12, ENST00000334895.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000404484.9, ENST00000558910.3, ENST00000559281.6, ENST00000559397.6, ENST00000559556.5, ENST00000560615.6, ENST00000560959.5, ENST00000560970.6, ENST00000561266.6, ENST00000651577.1, ENST00000651704.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 )
Source Database
ClinVar
Description
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) AND Cardiovascular phenotype
ClinVar Allele ID
176140
ClinVar RefSeq Alternation Syntax
NM_001018008.2:c.547G>A
ClinVar RefSeq Alternation Syntax
NM_001365776.1:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_000366.6:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001365778.1:c.781G>A
ClinVar RefSeq Alternation Syntax
NM_001018006.2:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001365779.1:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001365781.2:c.547G>A
ClinVar RefSeq Alternation Syntax
NM_001018020.2:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001301244.2:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001365777.1:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001330351.2:c.547G>A
ClinVar RefSeq Alternation Syntax
NM_001018005.2:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001330346.2:c.547G>A
ClinVar RefSeq Alternation Syntax
NM_001018007.2:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001301289.2:c.547G>A
ClinVar RefSeq Alternation Syntax
NM_001330344.2:c.547G>A
ClinVar RefSeq Alternation Syntax
NM_001018004.2:c.655G>A
ClinVar RefSeq Alternation Syntax
NM_001365782.1:c.547G>A
ClinVar RefSeq Alternation Syntax
NM_001365780.1:c.547G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2020-05-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002362792
Observed Origin Sample
germline
Drugs