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Results for "FUT8"

Variant Events: 60

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
FUT8     AU2129303chr14:
66739366-66739366
TCintergenicDe novo--Yuen2017 G
FUT8     AU4260303chr14:
66387496-66387496
CGintergenicDe novo--Yuen2017 G
FUT8     2-1220-003chr14:
66313128-66313128
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
FUT8     AU050910chr14:
66696634-66696634
CTintergenicDe novo--Yuen2017 G
FUT8     AU3900302chr14:
66699930-66699930
CAintergenicDe novo--Yuen2017 G
FUT8     7-0148-003chr14:
66849449-66849449
AGintergenicDe novo--Yuen2017 G
FUT8     2-1644-003chr14:
66154548-66154548
CGintronicDe novo--Yuen2017 G
FUT8     1-0079-008chr14:
66645227-66645227
GCintergenicDe novo--Yuen2017 G
FUT8     1-0404-003chr14:
66142646-66142646
CTintronicDe novo--Yuen2017 G
FUT8     5-0077-004chr14:
65935277-65935283
CTTAAAGCintronicDe novo--Yuen2017 G
FUT8     2-1336-003chr14:
66858475-66858475
CTintergenicDe novo--Yuen2017 G
FUT8     2-0144-004chr14:
66199905-66199905
AGintronicDe novo--Yuen2017 G
FUT8     AU3857301chr14:
66494332-66494332
GAintergenicDe novo--Yuen2017 G
FUT8     1-0445-003chr14:
66758619-66758619
CTintergenicDe novo--Yuen2017 G
FUT8     AU3648301chr14:
66826705-66826705
CTintergenicDe novo--Yuen2017 G
FUT8     2-0142-004chr14:
66354744-66354744
AGintergenicDe novo--Yuen2017 G
FUT8     2-1093-009chr14:
66310293-66310293
CTintergenicDe novo--Yuen2017 G
FUT8     2-1734-003chr14:
66673757-66673757
TCintergenicDe novo--Yuen2017 G
FUT8     1-0377-003chr14:
66480717-66480717
ATintergenicDe novo--Yuen2017 G
FUT8     2-1148-004chr14:
66270435-66270435
GAintergenicDe novo--Yuen2017 G
FUT8     11008.p1chr14:
66096265-66096265
CTexonicMosaicnonsynonymous SNVNM_004480
NM_178156
NM_178155
c.C49T
c.C538T
c.C538T
p.R17W
p.R180W
p.R180W
18.98.24E-6Dou2017 E
FUT8     1-0387-003chr14:
65928091-65928091
AGintronicDe novo--Yuen2016 G
Yuen2017 G
FUT8     7-0183-003chr14:
66129943-66129943
AGintronicDe novo--Yuen2017 G
FUT8     2-1577-003chr14:
66344013-66344013
GAintergenicDe novo--Yuen2017 G
FUT8     2-0300-003chr14:
66258319-66258319
TTGCintergenicDe novo--Yuen2017 G
FUT8     2-1277-004chr14:
66012107-66012107
GCintronicDe novo--Yuen2017 G
FUT8     2-1142-003chr14:
66153189-66153189
AGintronicDe novo--Yuen2017 G
FUT8     2-1228-003chr14:
65946333-65946333
CTintronicDe novo--Yuen2017 G
FUT8     AU4215302chr14:
66551131-66551131
TCintergenicDe novo--Yuen2017 G
FUT8     1-0007-003chr14:
66289437-66289437
TCintergenicDe novo--Yuen2017 G
FUT8     2-1362-004chr14:
66623516-66623516
CTintergenicDe novo--Yuen2017 G
FUT8     AU047704chr14:
66691174-66691174
ACintergenicDe novo--Yuen2017 G
FUT8     1-0914-003chr14:
66950205-66950205
AGintergenicDe novo--Yuen2017 G
FUT8     AU009903chr14:
66618103-66618103
GAintergenicDe novo--Yuen2017 G
FUT8     AU4199303chr14:
66321276-66321276
GAintergenicDe novo--Yuen2017 G
FUT8     2-0309-004chr14:
66685043-66685043
TAintergenicDe novo--Yuen2017 G
FUT8     12572.p1chr14:
66899549-66899551
ACTAintergenicDe novo--Werling2018 G
FUT8     AU4465303chr14:
66089045-66089045
AGintronicDe novo--Yuen2017 G
FUT8     2-1306-004chr14:
66167353-66167353
GAintronicDe novo--Yuen2017 G
FUT8     1-0278-003chr14:
66901312-66901312
TCintergenicDe novo--Yuen2016 G
FUT8     2-1292-004chr14:
65879930-65879930
GAintronicDe novo--Yuen2017 G
FUT8     AU1223301chr14:
66121499-66121499
CTintronicDe novo--Yuen2017 G
FUT8     1-0965-003chr14:
66170782-66170782
AGintronicDe novo--Yuen2017 G
FUT8     5-0050-004chr14:
66943647-66943647
TCintergenicDe novo--Yuen2017 G
FUT8     2-1736-003chr14:
66886314-66886314
ACintergenicDe novo--Yuen2017 G
FUT8     2-0318-004chr14:
65951869-65951882
ACATAGTAATACTTAintronicDe novo--Yuen2017 G
FUT8     7-0058-003chr14:
65941244-65941258
GAGGCAGAGGTTGCAGintronicDe novo--Yuen2017 G
FUT8     AU053503chr14:
66510026-66510028
CAGCintergenicDe novo--Yuen2017 G
FUT8     1-0469-003chr14:
66230045-66230048
GTTAGintergenicDe novo--Yuen2017 G
FUT8     1-0388-003chr14:
66329580-66329580
CTintergenicDe novo--Yuen2017 G
FUT8     2-1164-003chr14:
66577134-66577134
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
FUT8     1-0433-004chr14:
65945216-65945216
AATintronicDe novo--Yuen2017 G
FUT8     2-1306-003chr14:
66167353-66167353
GAintronicDe novo--Yuen2017 G
FUT8     AU3727303chr14:
66656632-66656632
GAintergenicDe novo--Yuen2017 G
FUT8     3-0447-000chr14:
66369628-66369628
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
FUT8     13946.p1chr14:
66453100-66453100
GAintergenicDe novo--Turner2016 G
FUT8     AU4231301chr14:
65935810-65935810
ACintronicDe novo--Yuen2017 G
FUT8     11456.p1chr14:
66466293-66466293
AGintergenicDe novo--Turner2016 G
FUT8     AU2123301chr14:
66670603-66670603
CTintergenicDe novo--Yuen2017 G
FUT8     12795.p1chr14:
66702692-66702692
GAintergenicDe novo--Turner2016 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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