Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TPM1 p.Ser257Leu (p.S257L)
(
ENST00000714014.1,
ENST00000559397.6,
ENST00000357980.9,
ENST00000714013.1,
ENST00000651577.1,
ENST00000651704.1,
ENST00000560615.6,
ENST00000403994.9,
ENST00000288398.10,
ENST00000404484.9,
ENST00000559281.6,
ENST00000714017.1,
ENST00000267996.11,
ENST00000317516.12,
ENST00000559556.5,
ENST00000560959.5,
ENST00000358278.7,
ENST00000561266.6,
ENST00000560970.6,
ENST00000558910.3,
ENST00000334895.10 )
TPM1 p.Ser257Leu (p.S257L) ( 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 ) - Associated Disease
- Primary familial hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) AND Primary familial hypertrophic cardiomyopathy
- ClinVar Allele ID
- 40543
- ClinVar RefSeq Alternation Syntax
- NM_001365778.1:c.770C>T
- ClinVar RefSeq Alternation Syntax
- NM_000366.6:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001018008.2:c.536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365776.1:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365779.1:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001018004.2:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001018006.2:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365777.1:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001330346.2:c.536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001018020.2:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001018005.2:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001330351.2:c.536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365781.2:c.536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001018007.2:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001301244.2:c.644C>T
- ClinVar RefSeq Alternation Syntax
- NM_001301289.2:c.536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001330344.2:c.536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365782.1:c.536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365780.1:c.536C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-09-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000143959
- ClinVar Disease
- Primary familial hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs