Primary Site >> Liver Cancer

Gene >> JAK3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000458235
Start 17843454:17843454(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.346C>A
AA Mutation p.His116Asn(p.H116N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000458235
Start 17832803:17832803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2477C>T
AA Mutation p.Ser826Leu(p.S826L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000458235
Start 17839584:17839584(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777849274
CDS Mutation c.1334G>A
AA Mutation p.Arg445Gln(p.R445Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000458235
Start 17831247:17831247(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2959G>A
AA Mutation p.Gly987Ser(p.G987S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000458235
Start 17835178:17835178(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1952G>A
AA Mutation p.Arg651Gln(p.R651Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000458235
Start 17831364:17831364(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200202992
CDS Mutation c.2842C>T
AA Mutation p.Arg948Cys(p.R948C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000458235
Start 17837190:17837190(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1725G>A
Mutation Classification Silent
Feature Type Transcript