Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GTF2H1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265963
Start 18365847:18365847(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377563352
CDS Mutation c.1625G>A
AA Mutation p.Arg542Gln(p.R542Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265963
Start 18352357:18352357(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1171T>G
AA Mutation p.Ser391Ala(p.S391A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000265963
Start 18341297:18341297(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.644T>C
AA Mutation p.Met215Thr(p.M215T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000265963
Start 18360615:18360615(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1468G>A
AA Mutation p.Val490Ile(p.V490I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000265963
Start 18347599:18347599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.849T>G
AA Mutation p.Ile283Met(p.I283M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000265963
Start 18360637:18360637(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1490T>C
AA Mutation p.Leu497Ser(p.L497S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000265963
Start 18335864:18335864(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.265C>T
AA Mutation p.Arg89Ter(p.R89*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> GTF2H1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265963
Start 18335778:18335778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.179A>C
AA Mutation p.Lys60Thr(p.K60T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265963
Start 18352403:18352403(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1217G>T
AA Mutation p.Ser406Ile(p.S406I)
Mutation Classification Missense_Mutation
Feature Type Transcript