Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TPM1 p.Glu82Lys (p.E82K)
(
ENST00000288398.10,
ENST00000403994.9,
ENST00000610733.1,
ENST00000714013.1,
ENST00000357980.9,
ENST00000559397.6,
ENST00000714014.1,
ENST00000560970.6,
ENST00000358278.7,
ENST00000561266.6,
ENST00000559556.5,
ENST00000267996.11,
ENST00000714017.1 )
TPM1 p.Glu82Lys (p.E82K) ( ENST00000267996.11, ENST00000288398.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000559397.6, ENST00000559556.5, ENST00000560970.6, ENST00000561266.6, ENST00000610733.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) AND Hypertrophic cardiomyopathy
- ClinVar Allele ID
- 27498
- ClinVar RefSeq Alternation Syntax
- NM_001018006.2:c.118G>A
- ClinVar RefSeq Alternation Syntax
- NM_000366.6:c.118G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365779.1:c.118G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018005.2:c.118G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365778.1:c.244G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018004.2:c.118G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018007.2:c.240+199G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018020.2:c.240+199G>A
- ClinVar RefSeq Alternation Syntax
- NM_001301244.2:c.240+199G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365777.1:c.118G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365776.1:c.118G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002513006
- ClinVar Disease
- Hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs