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Results for "CHSY3"

Variant Events: 54

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
CHSY3     5-0014-004chr5:
130254759-130254759
GAintergenicDe novo--Yuen2017 G
CHSY3     2-1461-003chr5:
130461939-130461939
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CHSY3     AU3874301chr5:
130301329-130301329
TCintergenicDe novo--Yuen2017 G
CHSY3     1-0265-004chr5:
130138121-130138121
CAintergenicDe novo--Yuen2017 G
CHSY3     AU3907302chr5:
129574505-129574523
TATTTATATAATTTATATATATTTATATAintergenicDe novo--Yuen2017 G
CHSY3     AU2793301chr5:
129953648-129953648
GAintergenicDe novo--Yuen2017 G
CHSY3     AU003406chr5:
129599347-129599347
GAintergenicDe novo--Yuen2017 G
CHSY3     AU027506chr5:
129674078-129674078
TCintergenicDe novo--Yuen2017 G
CHSY3     AU030703chr5:
129564198-129564198
TCintergenicDe novo--Yuen2017 G
CHSY3     AU1521301chr5:
129834102-129834102
CGintergenicDe novo--Yuen2017 G
CHSY3     1-0265-003chr5:
130138121-130138121
CAintergenicDe novo--Yuen2017 G
CHSY3     2-1265-003chr5:
130123146-130123146
GAintergenicDe novo--Yuen2017 G
CHSY3     AU4452302chr5:
129930178-129930178
CTintergenicDe novo--Yuen2017 G
CHSY3     2-1715-004chr5:
129636903-129636903
GAintergenicDe novo--Yuen2017 G
CHSY3     2-1620-004chr5:
130023159-130023159
CCATTTintergenicDe novo--Yuen2017 G
CHSY3     2-1502-003chr5:
130081984-130081993
CAGAAGAAGACAGAAGAintergenicDe novo--Yuen2017 G
CHSY3     2-0285-003chr5:
130369272-130369272
GCintergenicDe novo--Yuen2017 G
CHSY3     2-1460-003chr5:
129662853-129662853
CTintergenicDe novo--Yuen2017 G
CHSY3     AU4444304chr5:
129501342-129501342
AGintronicDe novo--Yuen2017 G
CHSY3     2-1152-003chr5:
130403225-130403225
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
CHSY3     1-0325-003chr5:
130175891-130175891
AGintergenicDe novo--Yuen2017 G
CHSY3     1-0458-003chr5:
129729567-129729567
TCintergenicDe novo--Yuen2017 G
CHSY3     1-0388-003chr5:
130036030-130036030
GAintergenicDe novo--Yuen2017 G
CHSY3     1-0382-003chr5:
129499449-129499449
ACintronicDe novo--Yuen2017 G
CHSY3     1-0354-006chr5:
130357293-130357293
GAintergenicDe novo--Yuen2017 G
CHSY3     AU2100302chr5:
130413218-130413218
AGintergenicDe novo--Yuen2017 G
CHSY3     AU4260303chr5:
129702621-129702621
CGintergenicDe novo--Yuen2017 G
CHSY3     2-1350-004chr5:
130189806-130189806
GAintergenicDe novo--Yuen2017 G
CHSY3     AU3918301chr5:
129390549-129390549
TCintronicDe novo--Yuen2017 G
CHSY3     2-0145-003chr5:
130461242-130461242
ATintergenicDe novo--Yuen2017 G
CHSY3     1-0986-003chr5:
130081195-130081195
ATintergenicDe novo--Yuen2017 G
CHSY3     2-1406-003chr5:
129581097-129581097
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
CHSY3     1-0201-005chr5:
130273056-130273056
TCintergenicDe novo--Yuen2017 G
CHSY3     1-0486-003chr5:
129965121-129965121
TGintergenicDe novo--Yuen2017 G
CHSY3     1-0531-003chr5:
130220537-130220537
CTintergenicDe novo--Yuen2017 G
CHSY3     1-0104-004chr5:
130461242-130461242
ATintergenicDe novo--Yuen2017 G
CHSY3     1-0473-003chr5:
129812303-129812303
GTintergenicDe novo--Yuen2017 G
CHSY3     2-1318-004chr5:
130461242-130461242
ATintergenicDe novo--Yuen2017 G
CHSY3     1-0413-003chr5:
130300487-130300487
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CHSY3     2-1290-004chr5:
129523464-129523464
ATintergenicDe novo--Yuen2017 G
CHSY3     AU057503chr5:
129643054-129643054
ATintergenicDe novo--Yuen2017 G
CHSY3     2-0304-003chr5:
129623555-129623555
CTintergenicDe novo--Yuen2017 G
CHSY3     AU3368302chr5:
130214977-130214977
GCintergenicDe novo--Yuen2017 G
CHSY3     2-0013-003chr5:
129267220-129267220
TTAATAintronicDe novo--Yuen2017 G
CHSY3     2-1129-003chr5:
130365981-130365981
GCintergenicDe novo--Yuen2017 G
CHSY3     AU3764302chr5:
130156329-130156329
AGintergenicDe novo--Yuen2017 G
CHSY3     1-0290-003chr5:
130000705-130000705
AGintergenicDe novo--Yuen2017 G
CHSY3     AU3790302chr5:
130319312-130319312
AGintergenicDe novo--Yuen2017 G
CHSY3     1-0439-003chr5:
129478143-129478143
GTintronicDe novo--Yuen2016 G
Yuen2017 G
CHSY3     12435.p1chr5:
129521409-129521409
CTexonicDe novosynonymous SNVNM_175856c.C2574Tp.F858F-5.808E-5Iossifov2014 E
Kosmicki2017 E
CHSY3     2-0307-003chr5:
129624076-129624076
GAintergenicDe novo--Yuen2017 G
CHSY3     1-0522-003chr5:
130175915-130175915
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
CHSY3     1-0412-003chr5:
130160723-130160723
CAintergenicDe novo--Yuen2017 G
CHSY3     2-0285-004chr5:
129408958-129408958
AGintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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