Primary Site >> Liver Cancer

Gene >> EPB41L5

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263713
Start 120077302:120077302(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.700A>G
AA Mutation p.Met234Val(p.M234V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000263713
Start 120090474:120090474(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1001A>G
AA Mutation p.His334Arg(p.H334R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000263713
Start 120078512:120078512(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.734A>T
AA Mutation p.Tyr245Phe(p.Y245F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000263713
Start 120164871:120164871(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1923T>C
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000263713
Start 120078574:120078574(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.802delT
AA Mutation p.Trp268GlyfsTer4(p.W268Gfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript