Annotation Detail

Information
Associated Genes
MAP2K1
Associated Variants
MAP2K1 p.Lys57Asn (p.K57N) ( ENST00000686347.1, ENST00000693150.1, ENST00000307102.10, ENST00000692683.1, ENST00000685763.1, ENST00000685172.1, ENST00000691576.1, ENST00000691937.1, ENST00000689951.1 )
MAP2K1 p.Lys57Asn (p.K57N) ( ENST00000307102.10, ENST00000685172.1, ENST00000685763.1, ENST00000686347.1, ENST00000689951.1, ENST00000691576.1, ENST00000691937.1, ENST00000692683.1, ENST00000693150.1 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND Non-small cell lung carcinoma
ClinVar Allele ID
224866
ClinVar RefSeq Alternation Syntax
NM_002755.4:c.171G>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-10-02
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000421288
ClinVar Disease
Non-small cell lung carcinoma
Observed Origin Sample
somatic
Drugs