Annotation Detail
Information
- Associated Genes
- RUNX2
- Associated Variants
-
RUNX2 p.Arg225Gln (p.R225Q)
(
ENST00000371432.7,
ENST00000576263.5,
ENST00000371436.10,
ENST00000359524.7,
ENST00000371438.5,
ENST00000625924.1,
ENST00000647337.2 )
RUNX2 p.Arg225Gln (p.R225Q) ( ENST00000359524.7, ENST00000371432.7, ENST00000371436.10, ENST00000371438.5, ENST00000576263.5, ENST00000625924.1, ENST00000647337.2 ) - Associated Disease
- RUNX2-related disorder
- Source Database
- ClinVar
- Description
- NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) AND RUNX2-related disorder
- ClinVar Allele ID
- 24341
- ClinVar RefSeq Alternation Syntax
- NM_001278478.2:c.632G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369405.1:c.632G>A
- ClinVar RefSeq Alternation Syntax
- NM_001024630.4:c.674G>A
- ClinVar RefSeq Alternation Syntax
- NM_001015051.4:c.674G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003934819
- ClinVar Disease
- RUNX2-related disorder
- Observed Origin Sample
- germline
Drugs