Primary Site >> Esophagus Cancer

Gene >> MASP1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000337774
Start 187262646:187262646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.312G>C
AA Mutation p.Gln104His(p.Q104H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000337774
Start 187229843:187229843(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150028177
CDS Mutation c.1358G>A
AA Mutation p.Arg453His(p.R453H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000337774
Start 187226469:187226469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs551848961
CDS Mutation c.1493C>T
AA Mutation p.Pro498Leu(p.P498L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000337774
Start 187225387:187225387(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1678G>T
AA Mutation p.Glu560Ter(p.E560*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript