Annotation Detail
Information
- Associated Genes
- MMP9 SLC12A5-AS1
- Associated Variants
-
MMP9 p.Arg668Gln (p.R668Q)
(
ENST00000372330.3 )
MMP9 p.Arg668Gln (p.R668Q) ( ENST00000372330.3 ) - Associated Disease
- Metaphyseal anadysplasia 2
- Source Database
- ClinVar
- Description
- NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln) AND Metaphyseal anadysplasia 2
- ClinVar Allele ID
- 351073
- ClinVar RefSeq Alternation Syntax
- NM_004994.3:c.2003G>A
- ClinVar RefSeq Alternation Syntax
- NR_147699.1:n.985C>T
- 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/RCV000271562
- ClinVar Disease
- Metaphyseal anadysplasia 2
- Observed Origin Sample
- germline
Drugs