Annotation Detail
Information
- Associated Genes
- PTPRJ
- Associated Variants
-
PTPRJ p.Arg214Cys (p.R214C)
(
ENST00000440289.6,
ENST00000418331.7,
ENST00000698881.1 )
PTPRJ p.Arg214Cys (p.R214C) ( ENST00000418331.7, ENST00000698881.1, ENST00000440289.6 ) - Associated Disease
- Carcinoma of colon
- Source Database
- ClinVar
- Description
- NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) AND Carcinoma of colon
- ClinVar Allele ID
- 23728
- ClinVar RefSeq Alternation Syntax
- NM_002843.4:c.640C>T
- ClinVar RefSeq Alternation Syntax
- NM_001098503.2:c.640C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009226
- ClinVar Disease
- Carcinoma of colon
- Observed Origin Sample
- somatic
- Pubmed
- 12089527
Drugs