Primary Site >> Liver Cancer

Gene >> HMGCR

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000287936
Start 75354609:75354609(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1475T>C
AA Mutation p.Val492Ala(p.V492A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000287936
Start 75350908:75350908(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.900A>T
AA Mutation p.Arg300Ser(p.R300S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000287936
Start 75354510:75354510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1376C>T
AA Mutation p.Ala459Val(p.A459V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000287936
Start 75350134:75350134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.649T>G
AA Mutation p.Ser217Ala(p.S217A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000287936
Start 75350868:75350868(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.860C>A
AA Mutation p.Ser287Tyr(p.S287Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000287936
Start 75355193:75355193(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1701delT
AA Mutation p.Asn567LysfsTer7(p.N567Kfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 7
Mutation Consequence protein_altering_variant
Transcription ID ENST00000287936
Start 75355191:75355192(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1699_1700insCAAGAC
AA Mutation p.Asn567delinsThrArgHis(p.N567delinsTRH)
Mutation Classification In_Frame_Ins
Feature Type Transcript