Annotation Detail
Information
- Associated Genes
- MATN3 WDR35-DT
- Associated Variants
-
MATN3 p.Thr303= (p.T303=)
(
ENST00000407540.8,
ENST00000421259.2 )
MATN3 p.Thr303= (p.T303=) ( ENST00000407540.8, ENST00000421259.2 ) - Associated Disease
- Multiple epiphyseal dysplasia type 5
- Source Database
- ClinVar
- Description
- NM_002381.5(MATN3):c.909G>A (p.Thr303=) AND Multiple epiphyseal dysplasia type 5
- ClinVar Allele ID
- 250476
- ClinVar RefSeq Alternation Syntax
- NM_002381.5:c.909G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000263664
- ClinVar Disease
- Multiple epiphyseal dysplasia type 5
- Observed Origin Sample
- germline
Drugs