Primary Site >> Esophagus Cancer

Gene >> SF3B2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000322535
Start 66059825:66059825(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751434640
CDS Mutation c.1445C>T
AA Mutation p.Ala482Val(p.A482V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000322535
Start 66059810:66059810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1430T>C
AA Mutation p.Met477Thr(p.M477T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000322535
Start 66057332:66057332(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.734G>A
AA Mutation p.Arg245Gln(p.R245Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000322535
Start 66068675:66068675(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2625delA
AA Mutation p.Lys875AsnfsTer59(p.K875Nfs*59)
Mutation Classification Frame_Shift_Del
Feature Type Transcript