Primary Site >> Esophagus Cancer

Gene >> PMS2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5995605:5995605(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.832C>G
AA Mutation p.His278Asp(p.H278D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5977728:5977728(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2305T>C
AA Mutation p.Ser769Pro(p.S769P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5986901:5986901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1864A>T
AA Mutation p.Met622Leu(p.M622L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5995599:5995599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.838G>C
AA Mutation p.Val280Leu(p.V280L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 6005938:6005938(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs34839707
CDS Mutation c.117A>G
Mutation Classification Silent
Feature Type Transcript