Primary Site >> Liver Cancer

Gene >> SHANK1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000293441
Start 50672048:50672048(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2644C>T
AA Mutation p.Pro882Ser(p.P882S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000293441
Start 50697891:50697891(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1813T>A
AA Mutation p.Ser605Thr(p.S605T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000293441
Start 50668445:50668445(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3515G>T
AA Mutation p.Ser1172Ile(p.S1172I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000293441
Start 50667108:50667108(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4852G>T
AA Mutation p.Asp1618Tyr(p.D1618Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000293441
Start 50668937:50668937(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3023C>A
AA Mutation p.Ala1008Asp(p.A1008D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000293441
Start 50666413:50666413(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752256461
CDS Mutation c.5547A>G
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000293441
Start 50668444:50668444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3516C>T
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000293441
Start 50666647:50666647(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5313C>A
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence frameshift_variant
Transcription ID ENST00000293441
Start 50666263:50666269(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5691_5697delCAGTGGG
AA Mutation p.Ser1898GlufsTer233(p.S1898Efs*233)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000293441
Start 50667215:50667215(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4745C>A
AA Mutation p.Ser1582Ter(p.S1582*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000293441
Start 50688000:50688001(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2229_2230dupCC
AA Mutation p.Gln744ProfsTer7(p.Q744Pfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 12
Mutation Consequence splice_donor_variant
Transcription ID ENST00000293441
Start 50686235:50686235(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2577+2T>C
Mutation Classification Splice_Site
Feature Type Transcript