Primary Site >> Esophagus Cancer

Gene >> PTPN13

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000411767
Start 86772901:86772901(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5292A>T
AA Mutation p.Gln1764His(p.Q1764H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000411767
Start 86796893:86796893(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761040655
CDS Mutation c.6365G>A
AA Mutation p.Cys2122Tyr(p.C2122Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000411767
Start 86772844:86772844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5235T>G
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000411767
Start 86765403:86765403(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4158G>A
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000411767
Start 86701783:86701783(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1177G>T
AA Mutation p.Glu393Ter(p.E393*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000411767
Start 86751029:86751029(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3071C>G
AA Mutation p.Ser1024Ter(p.S1024*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000411767
Start 86763120:86763120(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3947C>G
AA Mutation p.Ser1316Ter(p.S1316*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript