Annotation Detail

Information
Associated Genes
MMP9 SLC12A5-AS1
Associated Variants
MMP9 p.Arg574Pro (p.R574P) ( ENST00000372330.3 )
MMP9 p.Arg574Pro (p.R574P) ( ENST00000372330.3 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro) AND not specified
ClinVar Allele ID
266330
ClinVar RefSeq Alternation Syntax
NM_004994.3:c.1721G>C
ClinVar RefSeq Alternation Syntax
NR_147699.1:n.1690C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2015-11-09
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000381191
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs