Mutation

Primary Site >> Stomach Cancer

Gene >> ATP7B

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51941185:51941185(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377297166
CDS Mutation	c.3452G>A
AA Mutation	p.Arg1151His(p.R1151H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51939079:51939079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs532177115
CDS Mutation	c.3671G>A
AA Mutation	p.Arg1224Gln(p.R1224Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51961853:51961853(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1930A>G
AA Mutation	p.Lys644Glu(p.K644E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51950116:51950116(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121907994
CDS Mutation	c.2621C>T
AA Mutation	p.Ala874Val(p.A874V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51934880:51934880(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4274T>C
AA Mutation	p.Val1425Ala(p.V1425A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51939131:51939131(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766820841
CDS Mutation	c.3619C>T
AA Mutation	p.His1207Tyr(p.H1207Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51964921:51964921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1820A>C
AA Mutation	p.Lys607Thr(p.K607T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51941135:51941135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777879359
CDS Mutation	c.3502G>A
AA Mutation	p.Ala1168Thr(p.A1168T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51934991:51934991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371458882
CDS Mutation	c.4163C>T
AA Mutation	p.Ala1388Val(p.A1388V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000242839
Start	51941081:51941081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs786204547
CDS Mutation	c.3556G>A
AA Mutation	p.Gly1186Ser(p.G1186S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51964952:51964952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760501309
CDS Mutation	c.1789G>A
AA Mutation	p.Val597Ile(p.V597I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51968473:51968473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757281957
CDS Mutation	c.1678G>A
AA Mutation	p.Ala560Thr(p.A560T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51939070:51939070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3680C>T
AA Mutation	p.Ala1227Val(p.A1227V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51934922:51934922(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769672624
CDS Mutation	c.4232G>A
AA Mutation	p.Arg1411Gln(p.R1411Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51974628:51974628(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.592A>G
AA Mutation	p.Arg198Gly(p.R198G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51950356:51950356(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374592960
CDS Mutation	c.2491G>A
AA Mutation	p.Val831Ile(p.V831I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51974448:51974448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763787884
CDS Mutation	c.772A>G
AA Mutation	p.Thr258Ala(p.T258A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000242839
Start	51944164:51944164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587783309
CDS Mutation	c.3188C>T
AA Mutation	p.Ala1063Val(p.A1063V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51937662:51937662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3717C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51944235:51944235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3117C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51944154:51944154(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3198C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51958341:51958341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755218710
CDS Mutation	c.2325C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51958340:51958340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2326C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51970643:51970643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1392G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51974020:51974020(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1200A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242839
Start	51974857:51974857(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370199412
CDS Mutation	c.363C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	27
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000242839
Start	51944111:51944111(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3241G>T
AA Mutation	p.Glu1081Ter(p.E1081*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000242839
Start	51949784:51949784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2743C>T
AA Mutation	p.Gln915Ter(p.Q915*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript