Annotation Detail
Information
- Associated Genes
- PTPRJ
- Associated Variants
-
PTPRJ p.Gln276Pro (p.Q276P)
(
ENST00000698881.1,
ENST00000418331.7,
ENST00000440289.6 )
PTPRJ p.Gln276Pro (p.Q276P) ( ENST00000418331.7, ENST00000440289.6, ENST00000698881.1 ) - Associated Disease
- PTPRJ-related disorder
- Source Database
- ClinVar
- Description
- NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) AND PTPRJ-related disorder
- ClinVar Allele ID
- 23729
- ClinVar RefSeq Alternation Syntax
- NM_001098503.2:c.827A>C
- ClinVar RefSeq Alternation Syntax
- NM_002843.4:c.827A>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-10-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974812
- ClinVar Disease
- PTPRJ-related disorder
- Observed Origin Sample
- germline
Drugs