Annotation Detail
Information
- Associated Genes
- MMP14
- Associated Variants
-
MMP14 p.Pro259= (p.P259=)
(
ENST00000311852.11,
ENST00000548162.2 )
MMP14 p.Pro259= (p.P259=) ( ENST00000311852.11, ENST00000548162.2 ) - Associated Disease
- MMP14-related disorder
- Source Database
- ClinVar
- Description
- NM_004995.4(MMP14):c.777C>G (p.Pro259=) AND MMP14-related disorder
- ClinVar Allele ID
- 1223368
- ClinVar RefSeq Alternation Syntax
- NM_004995.4:c.777C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-11-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003980801
- ClinVar Disease
- MMP14-related disorder
- Observed Origin Sample
- germline
Drugs