Annotation Detail
Information
- Associated Genes
- LTA
- Associated Variants
-
LTA p.Cys13Arg (p.C13R)
(
ENST00000454783.5,
ENST00000418386.3 )
LTA p.Cys13Arg (p.C13R) ( ENST00000418386.3, ENST00000454783.5 ) - Associated Disease
- LTA-related disorder
- Source Database
- ClinVar
- Description
- NM_000595.4(LTA):c.37T>C (p.Cys13Arg) AND LTA-related disorder
- ClinVar Allele ID
- 3193444
- ClinVar RefSeq Alternation Syntax
- NM_000595.4:c.37T>C
- ClinVar RefSeq Alternation Syntax
- NM_001159740.2:c.37T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974612
- ClinVar Disease
- LTA-related disorder
- Observed Origin Sample
- germline
Drugs