Annotation Detail
Information
- Associated Genes
- MMP9 SLC12A5-AS1
- Associated Variants
-
MMP9 p.Arg574Leu (p.R574L)
(
ENST00000372330.3 )
MMP9 p.Arg574Leu (p.R574L) ( ENST00000372330.3 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004994.3(MMP9):c.1721G>T (p.Arg574Leu) AND not provided
- ClinVar Allele ID
- 3149494
- ClinVar RefSeq Alternation Syntax
- NM_004994.3:c.1721G>T
- ClinVar RefSeq Alternation Syntax
- NR_147699.1:n.1690C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003843220
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs