Primary Site >> Stomach Cancer

Gene >> GBA3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000508166
Start 22747752:22747752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.743C>T
AA Mutation p.Thr248Ile(p.T248I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000508166
Start 22736072:22736072(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778274609
CDS Mutation c.150T>C
Mutation Classification Silent
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000508166
Start 22748938:22748938(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs574685418
CDS Mutation c.1185A>G
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000508166
Start 22747871:22747871(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.862G>T
AA Mutation p.Glu288Ter(p.E288*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000508166
Start 22747914:22747915(version: GRCh38)
Mutation Type INS
dbSNP_RS rs776182136
CDS Mutation c.912dupT
AA Mutation p.Ala305CysfsTer29(p.A305Cfs*29)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript