Mutation

Primary Site >> Stomach Cancer

Gene >> STXBP5

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147382952:147382952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3368C>T
AA Mutation	p.Ala1123Val(p.A1123V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147315694:147315694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1582T>A
AA Mutation	p.Tyr528Asn(p.Y528N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147363391:147363391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2602G>T
AA Mutation	p.Gly868Cys(p.G868C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147363617:147363617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752927971
CDS Mutation	c.2828C>T
AA Mutation	p.Ser943Leu(p.S943L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147364057:147364057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs539017052
CDS Mutation	c.2972G>A
AA Mutation	p.Arg991Gln(p.R991Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147334190:147334190(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2114T>A
AA Mutation	p.Val705Asp(p.V705D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147316310:147316310(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1705G>A
AA Mutation	p.Val569Met(p.V569M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147314322:147314322(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1352T>G
AA Mutation	p.Ile451Ser(p.I451S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147327262:147327262(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2066G>A
AA Mutation	p.Arg689Gln(p.R689Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147313955:147313955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs34215830
CDS Mutation	c.1217C>T
AA Mutation	p.Ala406Val(p.A406V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147314624:147314624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1390G>A
AA Mutation	p.Asp464Asn(p.D464N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000321680
Start	147315680:147315680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1568C>T
AA Mutation	p.Ala523Val(p.A523V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321680
Start	147382950:147382950(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3366T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321680
Start	147382851:147382851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775791413
CDS Mutation	c.3267C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321680
Start	147291164:147291164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.909T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321680
Start	147313956:147313956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1218G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321680
Start	147267161:147267161(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.708T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000321680
Start	147363446:147363446(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2661delA
AA Mutation	p.Asp888ThrfsTer6(p.D888Tfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000321680
Start	147327130:147327130(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1938delT
AA Mutation	p.Phe646LeufsTer84(p.F646Lfs*84)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000321680
Start	147359272:147359272(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2498delC
AA Mutation	p.Pro833GlnfsTer11(p.P833Qfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000321680
Start	147359143:147359143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2365G>T
AA Mutation	p.Glu789Ter(p.E789*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript