Primary Site >> Stomach Cancer

Gene >> OPHN1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68193908:68193908(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749837689
CDS Mutation c.1183A>G
AA Mutation p.Asn395Asp(p.N395D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68053695:68053695(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2274A>C
AA Mutation p.Glu758Asp(p.E758D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68053784:68053784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2185C>T
AA Mutation p.Arg729Trp(p.R729W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68283064:68283064(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.304A>T
AA Mutation p.Met102Leu(p.M102L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68119279:68119279(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1330A>G
AA Mutation p.Thr444Ala(p.T444A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68283066:68283066(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.302G>T
AA Mutation p.Arg101Met(p.R101M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68113236:68113236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1365T>A
AA Mutation p.Asn455Lys(p.N455K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68192973:68192973(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1222T>C
AA Mutation p.Tyr408His(p.Y408H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68119257:68119257(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1352T>A
AA Mutation p.Phe451Tyr(p.F451Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000355520
Start 68210207:68210207(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.778T>C
AA Mutation p.Cys260Arg(p.C260R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000355520
Start 68193909:68193909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1182C>T
Mutation Classification Silent
Feature Type Transcript
ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000355520
Start 68192965:68192965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1230T>G
Mutation Classification Silent
Feature Type Transcript
ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000355520
Start 68052554:68052554(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2361C>T
Mutation Classification Silent
Feature Type Transcript
ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000355520
Start 68432880:68432880(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.141C>T
Mutation Classification Silent
Feature Type Transcript
ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000355520
Start 68073282:68073282(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1704T>C
Mutation Classification Silent
Feature Type Transcript
ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000355520
Start 68073197:68073197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1789C>T
AA Mutation p.Arg597Ter(p.R597*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence frameshift_variant
Transcription ID ENST00000355520
Start 68064121:68064122(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1890dupC
AA Mutation p.Lys631GlnfsTer17(p.K631Qfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 18
Mutation Consequence splice_acceptor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000355520
Start 68052586:68052644(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2325-54_2329delTTCTCACGTGTATACCAAAGCAACTTATGGGACTTGGTTGGCTTCTGTTTGCAGGGTGG
Mutation Classification Splice_Site
Feature Type Transcript