Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ASAH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50214769:50214769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1114G>A
AA Mutation	p.Ala372Thr(p.A372T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50206002:50206002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1510A>C
AA Mutation	p.Ile504Leu(p.I504L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50248546:50248546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.65C>T
AA Mutation	p.Ala22Val(p.A22V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50211058:50211058(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1304T>C
AA Mutation	p.Val435Ala(p.V435A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50218626:50218626(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.898T>C
AA Mutation	p.Phe300Leu(p.F300L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50243257:50243257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766598373
CDS Mutation	c.455G>A
AA Mutation	p.Arg152Gln(p.R152Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000395526
Start	50245434:50245434(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs772181094
CDS Mutation	c.148delT
AA Mutation	p.Ser50GlnfsTer40(p.S50Qfs*40)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ASAH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50206062:50206062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1450C>T
AA Mutation	p.Arg484Trp(p.R484W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50245409:50245409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.173C>A
AA Mutation	p.Thr58Asn(p.T58N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000395526
Start	50243257:50243257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766598373
CDS Mutation	c.455G>A
AA Mutation	p.Arg152Gln(p.R152Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000395526
Start	50245408:50245408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374685598
CDS Mutation	c.174C>A
Mutation Classification	Silent
Feature Type	Transcript