Primary Site >> Stomach Cancer

Gene >> ITIH1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000273283
Start 52790790:52790790(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2363C>T
AA Mutation p.Ser788Phe(p.S788F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000273283
Start 52782063:52782063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.811C>A
AA Mutation p.Leu271Met(p.L271M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000273283
Start 52787089:52787089(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1878G>T
AA Mutation p.Lys626Asn(p.K626N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000273283
Start 52789830:52789830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2297A>G
AA Mutation p.Asp766Gly(p.D766G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000273283
Start 52779469:52779469(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.448C>A
AA Mutation p.Leu150Ile(p.L150I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000273283
Start 52789743:52789743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2210A>G
AA Mutation p.Asn737Ser(p.N737S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000273283
Start 52785067:52785067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1431A>C
AA Mutation p.Lys477Asn(p.K477N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000273283
Start 52785100:52785100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1464C>T
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000273283
Start 52790797:52790797(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146607393
CDS Mutation c.2370C>T
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000273283
Start 52790893:52790893(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2466G>A
Mutation Classification Silent
Feature Type Transcript
ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000273283
Start 52790848:52790848(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2421G>T
Mutation Classification Silent
Feature Type Transcript
ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000273283
Start 52788054:52788054(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373390489
CDS Mutation c.1993C>T
AA Mutation p.Arg665Ter(p.R665*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000273283
Start 52790828:52790828(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200827836
CDS Mutation c.2401C>T
AA Mutation p.Arg801Ter(p.R801*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000273283
Start 52786994:52786994(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757375117
CDS Mutation c.1783C>T
AA Mutation p.Gln595Ter(p.Q595*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000273283
Start 52791854:52791855(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2683dupG
AA Mutation p.Ala895GlyfsTer10(p.A895Gfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 16
Mutation Consequence inframe_insertion
Transcription ID ENST00000273283
Start 52778948:52778949(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.314_331dupATGGAAACGCATTTATCG
AA Mutation p.Asp105_Ile110dup(p.D105_I110dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript