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
not provided
Source Database
ClinVar
Description
NM_004995.4(MMP14):c.777C>G (p.Pro259=) AND not provided
ClinVar Allele ID
1223368
ClinVar RefSeq Alternation Syntax
NM_004995.4:c.777C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001621303
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs