Annotation Detail

Information
Associated Genes
MAP2K1
Associated Variants
MAP2K1 p.Pro124Ser (p.P124S) ( ENST00000685172.1, ENST00000692683.1, ENST00000685763.1, ENST00000307102.10, ENST00000693150.1, ENST00000689951.1, ENST00000691937.1, ENST00000686347.1, ENST00000691576.1 )
MAP2K1 p.Pro124Ser (p.P124S) ( ENST00000307102.10, ENST00000685172.1, ENST00000685763.1, ENST00000686347.1, ENST00000689951.1, ENST00000691576.1, ENST00000691937.1, ENST00000692683.1, ENST00000693150.1 )
Source Database
ClinVar
Description
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Transitional cell carcinoma of the bladder
ClinVar Allele ID
362860
ClinVar RefSeq Alternation Syntax
NM_002755.4:c.370C>T
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/RCV000426713
Observed Origin Sample
somatic
Drugs