Primary Site >> Liver Cancer

Gene >> MASP2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000400897
Start 11027020:11027020(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1926T>G
AA Mutation p.Ser642Arg(p.S642R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000400897
Start 11042933:11042933(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.831C>G
Mutation Classification Silent
Feature Type Transcript
ID 3
Mutation Consequence inframe_deletion
Transcription ID ENST00000400897
Start 11027603:11027629(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1317_1343delCACAACAGGAGGGCGTATATATGGAGG
AA Mutation p.Thr440_Gly448del(p.T440_G448del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 4
Mutation Consequence start_lost;splice_region_variant
Transcription ID ENST00000400897
Start 11047205:11047205(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3G>A
AA Mutation p.Met1?(p.M1?)
Mutation Classification Translation_Start_Site
Feature Type Transcript