Primary Site >> Liver Cancer

Gene >> PCDH19

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000373034
Start 100296542:100296542(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756173536
CDS Mutation c.3182C>A
AA Mutation p.Ala1061Glu(p.A1061E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000373034
Start 100407114:100407114(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1484C>T
AA Mutation p.Ser495Leu(p.S495L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000373034
Start 100341914:100341914(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2837T>G
AA Mutation p.Met946Arg(p.M946R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000373034
Start 100403625:100403625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2187A>T
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000373034
Start 100296519:100296519(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3205delC
AA Mutation p.Leu1069SerfsTer61(p.L1069Sfs*61)
Mutation Classification Frame_Shift_Del
Feature Type Transcript