Mutation

Primary Site >> Stomach Cancer

Gene >> ITPR1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4702855:4702855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4562T>C
AA Mutation	p.Leu1521Pro(p.L1521P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4735262:4735262(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5452G>A
AA Mutation	p.Asp1818Asn(p.D1818N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4658254:4658254(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1127G>A
AA Mutation	p.Arg376His(p.R376H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4818174:4818174(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs568805900
CDS Mutation	c.7960G>A
AA Mutation	p.Val2654Ile(p.V2654I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4814516:4814516(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773763162
CDS Mutation	c.7655G>A
AA Mutation	p.Arg2552Gln(p.R2552Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4627825:4627825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.226G>A
AA Mutation	p.Ala76Thr(p.A76T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4768561:4768561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5776G>A
AA Mutation	p.Glu1926Lys(p.E1926K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4645624:4645624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.751C>G
AA Mutation	p.Leu251Val(p.L251V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4788088:4788088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6757C>A
AA Mutation	p.Leu2253Met(p.L2253M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4676674:4676674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749154645
CDS Mutation	c.2840G>A
AA Mutation	p.Arg947Gln(p.R947Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4658160:4658160(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369055445
CDS Mutation	c.1033C>T
AA Mutation	p.Arg345Trp(p.R345W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4775338:4775338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6076C>A
AA Mutation	p.Leu2026Ile(p.L2026I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4516546:4516546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.55G>A
AA Mutation	p.Ala19Thr(p.A19T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4673336:4673336(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2405T>C
AA Mutation	p.Val802Ala(p.V802A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4676781:4676781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2947A>G
AA Mutation	p.Lys983Glu(p.K983E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4706281:4706281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs569597087
CDS Mutation	c.4772G>A
AA Mutation	p.Arg1591His(p.R1591H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4667462:4667462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1799A>G
AA Mutation	p.His600Arg(p.H600R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4516549:4516549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.58G>A
AA Mutation	p.Glu20Lys(p.E20K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4652178:4652178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773337674
CDS Mutation	c.911G>A
AA Mutation	p.Arg304His(p.R304H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4673318:4673318(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2387A>G
AA Mutation	p.Gln796Arg(p.Q796R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4768537:4768537(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5752G>A
AA Mutation	p.Glu1918Lys(p.E1918K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4775252:4775252(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5990G>A
AA Mutation	p.Arg1997His(p.R1997H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4642205:4642205(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.479G>T
AA Mutation	p.Trp160Leu(p.W160L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4662176:4662176(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1346C>T
AA Mutation	p.Ala449Val(p.A449V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4693581:4693581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753284214
CDS Mutation	c.4121G>A
AA Mutation	p.Arg1374Gln(p.R1374Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4783844:4783844(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6539G>A
AA Mutation	p.Ser2180Asn(p.S2180N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4674330:4674330(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2585A>C
AA Mutation	p.Lys862Thr(p.K862T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000354582
Start	4815155:4815155(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7804G>T
AA Mutation	p.Ala2602Ser(p.A2602S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000354582
Start	4814553:4814553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779290814
CDS Mutation	c.7692G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000354582
Start	4818200:4818200(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368405302
CDS Mutation	c.7986C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000354582
Start	4811376:4811376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7384C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000354582
Start	4779594:4779594(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780136024
CDS Mutation	c.6336C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000354582
Start	4779561:4779561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771768628
CDS Mutation	c.6303G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000354582
Start	4788031:4788031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6700C>T
AA Mutation	p.Arg2234Ter(p.R2234*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	35
Mutation Consequence	stop_gained
Transcription ID	ENST00000354582
Start	4680610:4680610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3025C>T
AA Mutation	p.Arg1009Ter(p.R1009*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	36
Mutation Consequence	stop_gained
Transcription ID	ENST00000354582
Start	4766656:4766656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5671G>T
AA Mutation	p.Gly1891Ter(p.G1891*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	37
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000354582
Start	4691314:4691315(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.4005dupA
AA Mutation	p.Cys1336MetfsTer42(p.C1336Mfs*42)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	38
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000354582
Start	4768509:4768509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5726-2A>T
Mutation Classification	Splice_Site
Feature Type	Transcript