Annotation Detail
Information
- Associated Genes
- TIMP2
- Associated Variants
-
TIMP2 p.Ser101= (p.S101=)
(
ENST00000586057.5,
ENST00000586713.6,
ENST00000262768.11,
ENST00000536189.6,
ENST00000585421.5 )
TIMP2 p.Ser101= (p.S101=) ( ENST00000262768.11, ENST00000536189.6, ENST00000585421.5, ENST00000586057.5, ENST00000586713.6 ) - Associated Disease
- TIMP2-related disorder
- Source Database
- ClinVar
- Description
- NM_003255.5(TIMP2):c.303G>A (p.Ser101=) AND TIMP2-related disorder
- ClinVar Allele ID
- 3193447
- ClinVar RefSeq Alternation Syntax
- NM_003255.5:c.303G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-06-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974615
- ClinVar Disease
- TIMP2-related disorder
- Observed Origin Sample
- germline
Drugs