Primary Site >> Liver Cancer

Gene >> JAK2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000381652
Start 5126358:5126358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3203A>G
AA Mutation p.Asp1068Gly(p.D1068G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000381652
Start 5073770:5073770(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs77375493
CDS Mutation c.1849G>T
AA Mutation p.Val617Phe(p.V617F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000381652
Start 5072525:5072525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1675A>C
AA Mutation p.Ile559Leu(p.I559L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000381652
Start 5044434:5044434(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.382A>T
AA Mutation p.Ser128Cys(p.S128C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000381652
Start 5081813:5081813(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2523T>G
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000381652
Start 5069060:5069060(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1365A>G
Mutation Classification Silent
Feature Type Transcript