Annotation Detail
Information
- Associated Genes
- MMP9
- Associated Variants
-
MMP9 p.Gln279Arg (p.Q279R)
(
ENST00000372330.3 )
MMP9 p.Gln279Arg (p.Q279R) ( ENST00000372330.3 ) - Associated Disease
- Metaphyseal anadysplasia 2
- Source Database
- ClinVar
- Description
- NM_004994.3(MMP9):c.836A>G (p.Gln279Arg) AND Metaphyseal anadysplasia 2
- ClinVar Allele ID
- 335587
- ClinVar RefSeq Alternation Syntax
- NM_004994.3:c.836A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000299484
- ClinVar Disease
- Metaphyseal anadysplasia 2
- Observed Origin Sample
- germline
Drugs