Primary Site >> Esophagus Cancer

Gene >> KDM5A

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000399788
Start 309841:309841(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3340G>A
AA Mutation p.Glu1114Lys(p.E1114K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000399788
Start 309947:309947(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3234C>T
Mutation Classification Silent
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000399788
Start 313154:313160(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2932_2938delGTGAATG
AA Mutation p.Val978LysfsTer15(p.V978Kfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000399788
Start 322553:322553(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2290C>T
AA Mutation p.Arg764Ter(p.R764*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript