Mutation

Primary Site >> Stomach Cancer

Gene >> JAK3

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17838053:17838053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1580T>G
AA Mutation	p.Leu527Arg(p.L527R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17831324:17831324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2882C>T
AA Mutation	p.Ala961Val(p.A961V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17840279:17840279(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767428670
CDS Mutation	c.1205G>A
AA Mutation	p.Arg402His(p.R402H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17844397:17844397(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.21G>T
AA Mutation	p.Glu7Asp(p.E7D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17841656:17841656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.968C>G
AA Mutation	p.Thr323Arg(p.T323R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17832843:17832843(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2437G>A
AA Mutation	p.Asp813Asn(p.D813N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17843450:17843450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.350G>A
AA Mutation	p.Arg117His(p.R117H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17839527:17839527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1391T>C
AA Mutation	p.Val464Ala(p.V464A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17840276:17840276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1208G>A
AA Mutation	p.Arg403His(p.R403H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17826861:17826861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3257C>A
AA Mutation	p.Pro1086Gln(p.P1086Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17840325:17840325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745373403
CDS Mutation	c.1159A>G
AA Mutation	p.Asn387Asp(p.N387D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17844300:17844300(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140784576
CDS Mutation	c.118C>T
AA Mutation	p.Arg40Cys(p.R40C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17832649:17832649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2550C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17836025:17836025(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1813C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000458235
Start	17835152:17835152(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1978delG
AA Mutation	p.Ala660LeufsTer10(p.A660Lfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	16
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000458235
Start	17838267:17838268(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1549_1564dupCCTGCTGACAGCCTGG
AA Mutation	p.Glu522AlafsTer3(p.E522Afs*3)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript