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Results for "XYLT1"
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
XYLT1
AU050910
chr16:
17943289-17943289
C
T
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0757-003
chr16:
18222365-18222365
T
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
63-343
chr16:
17245009-17245009
G
A
intronic
Inherited
-
-
Michaelson2012
G
XYLT1
2-1245-003
chr16:
17614725-17614725
G
A
intergenic
De novo
-
-
Yuen2017
G
XYLT1
3-0307-000
chr16:
18014891-18014891
A
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0338-003
chr16:
17771888-17771888
C
G
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0346-004
chr16:
17267064-17267064
G
T
intronic
De novo
-
-
Yuen2017
G
XYLT1
1-0699-003
chr16:
18082297-18082297
A
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU3782303
chr16:
17434900-17434900
G
A
intronic
De novo
-
-
Yuen2017
G
XYLT1
1-0699-003
chr16:
18082288-18082288
C
G
intergenic
De novo
-
-
Yuen2017
G
XYLT1
UK10K_SKUSE5080186
chr16:
17228330-17228330
C
T
exonic
De novo
nonsynonymous SNV
NM_022166
c.G2027A
p.R676Q
32.0
2.526E-5
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
XYLT1
3-0438-000
chr16:
17455640-17455640
C
T
intronic
De novo
-
-
Yuen2016
G
XYLT1
2-1215-003
chr16:
17247972-17247972
G
A
intronic
De novo
-
-
Yuen2017
G
XYLT1
AU3912302
chr16:
17714471-17714471
G
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0330-004
chr16:
17414548-17414548
A
G
intronic
De novo
-
-
Yuen2017
G
XYLT1
AU3703302
chr16:
17493942-17493942
C
T
intronic
De novo
-
-
Yuen2017
G
XYLT1
AU3122301
chr16:
17740347-17740352
GTGTTT
GT
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU3794302
chr16:
18053460-18053460
G
A
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU0636303
chr16:
17851932-17851932
A
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU4032305
chr16:
18342423-18342423
T
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
7-0068-003
chr16:
18400234-18400234
G
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
2-1702-003
chr16:
17952706-17952706
G
A
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0068-003
chr16:
17453871-17453871
G
A
intronic
De novo
-
-
Yuen2017
G
XYLT1
AU2333302
chr16:
17788191-17788191
T
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
2-0135-003
chr16:
18140158-18140158
G
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0277-003
chr16:
17990828-17990828
C
T
intergenic
De novo
-
-
Yuen2016
G
XYLT1
1-0627-004
chr16:
17986248-17986250
GTT
GT
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU3721301
chr16:
18362132-18362140
CCCATTCCA
CCCA
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU3052301
chr16:
17668987-17668987
A
G
intergenic
De novo
-
-
Yuen2017
G
XYLT1
2-1168-003
chr16:
17975405-17975405
C
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
XYLT1
AU4150301
chr16:
18251804-18251804
T
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0804-003
chr16:
17765083-17765083
G
T
intergenic
De novo
-
-
Yuen2017
G
XYLT1
7-0253-003
chr16:
18185671-18185685
AAGAGAGAGAGAGAG
AAGAGAGAGAGAG
intergenic
De novo
-
-
Yuen2017
G
XYLT1
2-1380-003
chr16:
18074068-18074068
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
XYLT1
AU071804
chr16:
18036902-18036902
A
G
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0567-003
chr16:
17782011-17782011
T
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
7-0171-003
chr16:
18127337-18127337
G
A
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU3905301
chr16:
17575180-17575180
C
T
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU2863303
chr16:
18137682-18137682
A
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
1-0233-004
chr16:
17445832-17445832
C
G
intronic
De novo
-
-
Yuen2017
G
XYLT1
2-1154-003
chr16:
17612737-17612737
G
A
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
XYLT1
1-0278-003
chr16:
17787267-17787267
T
C
intergenic
De novo
-
-
Yuen2016
G
XYLT1
13515.p1
chr16:
17665877-17665877
T
C
intergenic
De novo
-
-
Turner2016
G
XYLT1
1-0965-003
chr16:
18297738-18297738
A
T
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU3175302
chr16:
17614078-17614078
C
T
intergenic
De novo
-
-
Yuen2017
G
XYLT1
2-0102-003
chr16:
17246887-17246887
G
A
intronic
De novo
-
-
Yuen2017
G
XYLT1
AU039305
chr16:
17400471-17400471
C
T
intronic
De novo
-
-
Yuen2017
G
XYLT1
SP0091856
chr16:
17221583-17221583
C
T
exonic
De novo
synonymous SNV
NM_022166
c.G2163A
p.P721P
-
4.943E-5
Fu2022
E
XYLT1
AU3724301
chr16:
17685764-17685764
G
T
intergenic
De novo
-
-
Yuen2017
G
XYLT1
SP0147198
chr16:
17451874-17451874
T
C
exonic
De novo
nonsynonymous SNV
NM_022166
c.A397G
p.T133A
0.067
-
Fu2022
E
XYLT1
5-0088-003
chr16:
17393962-17393962
G
A
intronic
De novo
-
-
Yuen2017
G
XYLT1
SP0038010
chr16:
17232166-17232166
G
A
intronic
De novo
-
-
Fu2022
E
XYLT1
AU074503
chr16:
17244294-17244294
C
T
intronic
De novo
-
-
Yuen2017
G
XYLT1
1-0214-003
chr16:
17253870-17253870
A
G
intronic
De novo
-
-
Yuen2017
G
XYLT1
1-0994-003
chr16:
18053935-18053935
G
A
intergenic
De novo
-
-
Yuen2017
G
XYLT1
AU4032306
chr16:
18342423-18342423
T
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
2-1140-003
chr16:
17328842-17328842
T
G
intronic
De novo
-
-
Yuen2017
G
XYLT1
2-1368-003
chr16:
18264838-18264838
T
C
intergenic
De novo
-
-
Yuen2017
G
XYLT1
2-1522-003
chr16:
17197880-17197880
T
G
UTR3
De novo
-
-
Yuen2017
G
XYLT1
AU017704
chr16:
18064691-18064691
G
A
intergenic
De novo
-
-
Yuen2017
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 notes
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