Annotation Detail
Information
- Associated Genes
- MAPK1
- Associated Variants
-
MAPK1 p.Glu322Lys (p.E322K)
(
ENST00000398822.7,
ENST00000215832.11,
ENST00000544786.1 )
MAPK1 p.Glu322Lys (p.E322K) ( ENST00000215832.11, ENST00000398822.7, ENST00000544786.1 ) - Source Database
- ClinVar
- Description
- NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys) AND Transitional cell carcinoma of the bladder
- ClinVar Allele ID
- 363329
- ClinVar RefSeq Alternation Syntax
- NM_002745.5:c.964G>A
- ClinVar RefSeq Alternation Syntax
- NM_138957.3:c.964G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000442294
- Observed Origin Sample
- somatic
Drugs