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Results for "XYLT1"

Variant Events: 57

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     AU050910chr16:
17943289-17943289
CTintergenicDe novo--Yuen2017 G
XYLT1     1-0757-003chr16:
18222365-18222365
TCintergenicDe novo--Yuen2017 G
XYLT1     63-343chr16:
17245009-17245009
GAintronicInherited--Michaelson2012 G
XYLT1     2-1245-003chr16:
17614725-17614725
GAintergenicDe novo--Yuen2017 G
XYLT1     3-0307-000chr16:
18014891-18014891
ACintergenicDe novo--Yuen2017 G
XYLT1     1-0338-003chr16:
17771888-17771888
CGintergenicDe novo--Yuen2017 G
XYLT1     1-0346-004chr16:
17267064-17267064
GTintronicDe novo--Yuen2017 G
XYLT1     1-0699-003chr16:
18082297-18082297
ACintergenicDe novo--Yuen2017 G
XYLT1     AU3782303chr16:
17434900-17434900
GAintronicDe novo--Yuen2017 G
XYLT1     1-0699-003chr16:
18082288-18082288
CGintergenicDe novo--Yuen2017 G
XYLT1     UK10K_SKUSE5080186chr16:
17228330-17228330
CTexonicDe novononsynonymous SNVNM_022166c.G2027Ap.R676Q32.02.526E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
XYLT1     3-0438-000chr16:
17455640-17455640
CTintronicDe novo--Yuen2016 G
XYLT1     2-1215-003chr16:
17247972-17247972
GAintronicDe novo--Yuen2017 G
XYLT1     AU3912302chr16:
17714471-17714471
GCintergenicDe novo--Yuen2017 G
XYLT1     1-0330-004chr16:
17414548-17414548
AGintronicDe novo--Yuen2017 G
XYLT1     AU3703302chr16:
17493942-17493942
CTintronicDe novo--Yuen2017 G
XYLT1     AU3122301chr16:
17740347-17740352
GTGTTTGTintergenicDe novo--Yuen2017 G
XYLT1     AU3794302chr16:
18053460-18053460
GAintergenicDe novo--Yuen2017 G
XYLT1     AU0636303chr16:
17851932-17851932
ACintergenicDe novo--Yuen2017 G
XYLT1     AU4032305chr16:
18342423-18342423
TCintergenicDe novo--Yuen2017 G
XYLT1     7-0068-003chr16:
18400234-18400234
GCintergenicDe novo--Yuen2017 G
XYLT1     2-1702-003chr16:
17952706-17952706
GAintergenicDe novo--Yuen2017 G
XYLT1     1-0068-003chr16:
17453871-17453871
GAintronicDe novo--Yuen2017 G
XYLT1     AU2333302chr16:
17788191-17788191
TCintergenicDe novo--Yuen2017 G
XYLT1     2-0135-003chr16:
18140158-18140158
GCintergenicDe novo--Yuen2017 G
XYLT1     1-0277-003chr16:
17990828-17990828
CTintergenicDe novo--Yuen2016 G
XYLT1     1-0627-004chr16:
17986248-17986250
GTTGTintergenicDe novo--Yuen2017 G
XYLT1     AU3721301chr16:
18362132-18362140
CCCATTCCACCCAintergenicDe novo--Yuen2017 G
XYLT1     AU3052301chr16:
17668987-17668987
AGintergenicDe novo--Yuen2017 G
XYLT1     2-1168-003chr16:
17975405-17975405
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
XYLT1     AU4150301chr16:
18251804-18251804
TCintergenicDe novo--Yuen2017 G
XYLT1     1-0804-003chr16:
17765083-17765083
GTintergenicDe novo--Yuen2017 G
XYLT1     7-0253-003chr16:
18185671-18185685
AAGAGAGAGAGAGAGAAGAGAGAGAGAGintergenicDe novo--Yuen2017 G
XYLT1     2-1380-003chr16:
18074068-18074068
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
XYLT1     AU071804chr16:
18036902-18036902
AGintergenicDe novo--Yuen2017 G
XYLT1     1-0567-003chr16:
17782011-17782011
TCintergenicDe novo--Yuen2017 G
XYLT1     7-0171-003chr16:
18127337-18127337
GAintergenicDe novo--Yuen2017 G
XYLT1     AU3905301chr16:
17575180-17575180
CTintergenicDe novo--Yuen2017 G
XYLT1     AU2863303chr16:
18137682-18137682
ACintergenicDe novo--Yuen2017 G
XYLT1     1-0233-004chr16:
17445832-17445832
CGintronicDe novo--Yuen2017 G
XYLT1     2-1154-003chr16:
17612737-17612737
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
XYLT1     1-0278-003chr16:
17787267-17787267
TCintergenicDe novo--Yuen2016 G
XYLT1     13515.p1chr16:
17665877-17665877
TCintergenicDe novo--Turner2016 G
XYLT1     1-0965-003chr16:
18297738-18297738
ATintergenicDe novo--Yuen2017 G
XYLT1     AU3175302chr16:
17614078-17614078
CTintergenicDe novo--Yuen2017 G
XYLT1     2-0102-003chr16:
17246887-17246887
GAintronicDe novo--Yuen2017 G
XYLT1     AU039305chr16:
17400471-17400471
CTintronicDe novo--Yuen2017 G
XYLT1     AU3724301chr16:
17685764-17685764
GTintergenicDe novo--Yuen2017 G
XYLT1     5-0088-003chr16:
17393962-17393962
GAintronicDe novo--Yuen2017 G
XYLT1     AU074503chr16:
17244294-17244294
CTintronicDe novo--Yuen2017 G
XYLT1     1-0214-003chr16:
17253870-17253870
AGintronicDe novo--Yuen2017 G
XYLT1     1-0994-003chr16:
18053935-18053935
GAintergenicDe novo--Yuen2017 G
XYLT1     AU4032306chr16:
18342423-18342423
TCintergenicDe novo--Yuen2017 G
XYLT1     2-1140-003chr16:
17328842-17328842
TGintronicDe novo--Yuen2017 G
XYLT1     2-1368-003chr16:
18264838-18264838
TCintergenicDe novo--Yuen2017 G
XYLT1     2-1522-003chr16:
17197880-17197880
TGUTR3De novo--Yuen2017 G
XYLT1     AU017704chr16:
18064691-18064691
GAintergenicDe 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 notesView
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