Primary Site >> Esophagus Cancer

Gene >> HHIP

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000296575
Start 144658938:144658938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.621G>T
AA Mutation p.Glu207Asp(p.E207D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000296575
Start 144718931:144718931(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1735C>T
AA Mutation p.Leu579Phe(p.L579F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000296575
Start 144737826:144737826(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1977delA
AA Mutation p.Gly660AspfsTer17(p.G660Dfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000296575
Start 144712018:144712019(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1376dupA
AA Mutation p.Asn459LysfsTer17(p.N459Kfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript