Primary Site >> Liver Cancer

Gene >> MEFV

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243875:3243875(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375665850
CDS Mutation c.1777G>A
AA Mutation p.Ala593Thr(p.A593T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3254779:3254779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.289C>G
AA Mutation p.Gln97Glu(p.Q97E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3246531:3246531(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1604T>C
AA Mutation p.Leu535Ser(p.L535S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3248983:3248983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1282G>A
AA Mutation p.Glu428Lys(p.E428K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3256451:3256451(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.137A>T
AA Mutation p.Gln46Leu(p.Q46L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3254621:3254621(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.447C>T
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3254270:3254270(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.798G>A
Mutation Classification Silent
Feature Type Transcript