Primary Site >> Esophagus Cancer

Gene >> MIA3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222653282:222653282(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4264G>C
AA Mutation p.Glu1422Gln(p.E1422Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222629659:222629659(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2439A>C
AA Mutation p.Glu813Asp(p.E813D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000344922
Start 222653292:222653292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4274A>G
AA Mutation p.Asn1425Ser(p.N1425S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000344922
Start 222627717:222627717(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.503delA
AA Mutation p.Asn168ThrfsTer15(p.N168Tfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000344922
Start 222660287:222660287(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5086C>T
AA Mutation p.Arg1696Ter(p.R1696*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence splice_acceptor_variant;splice_donor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000344922
Start 222662124:222662251(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5183-1_5182+1delGTAAGGGAGCAAGAGTGTTCAAAGAGTCTAAAACCATGCAGGAAGTGGGGAGAGGATTTTTTTTTTAATCCTCCTCACAGAGTACACAAGTCAGAATAAGTCTACATCAGTTCTCTGGTCTTTAACAG
Mutation Classification Splice_Site
Feature Type Transcript