Variant Results

or

Results for "CHSY3"

Variant Events: 69

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

5-0014-004

chr5:
130254759-130254759

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1461-003

chr5:
130461939-130461939

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHSY3

AU3874301

chr5:
130301329-130301329

T

C

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0265-004

chr5:
130138121-130138121

C

A

intergenic

De novo

-

Yuen2017 G

CHSY3

AU3907302

chr5:
129574505-129574523

TATTTATATAATTTATATA

TATTTATATA

intergenic

De novo

-

Yuen2017 G

CHSY3

AU2793301

chr5:
129953648-129953648

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

AU003406

chr5:
129599347-129599347

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

AU027506

chr5:
129674078-129674078

T

C

intergenic

De novo

-

Yuen2017 G

CHSY3

AU030703

chr5:
129564198-129564198

T

C

intergenic

De novo

-

Yuen2017 G

CHSY3

AU1521301

chr5:
129834102-129834102

C

G

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0265-003

chr5:
130138121-130138121

C

A

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1265-003

chr5:
130123146-130123146

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

SSC05436

chr5:
129521409-129521409

C

T

exonic

De novo

synonymous SNV

NM_175856

c.C2574T

p.F858F

-

5.808E-5

Fu2022 E

CHSY3

AU4452302

chr5:
129930178-129930178

C

T

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1715-004

chr5:
129636903-129636903

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1620-004

chr5:
130023159-130023159

C

CATTT

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1502-003

chr5:
130081984-130081993

CAGAAGAAGA

CAGAAGA

intergenic

De novo

-

Yuen2017 G

CHSY3

2-0285-003

chr5:
130369272-130369272

G

C

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1460-003

chr5:
129662853-129662853

C

T

intergenic

De novo

-

Yuen2017 G

CHSY3

AU4444304

chr5:
129501342-129501342

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHSY3

2-1152-003

chr5:
130403225-130403225

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHSY3

1-0325-003

chr5:
130175891-130175891

A

G

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0458-003

chr5:
129729567-129729567

T

C

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0388-003

chr5:
130036030-130036030

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0382-003

chr5:
129499449-129499449

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHSY3

1-0354-006

chr5:
130357293-130357293

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

AU2100302

chr5:
130413218-130413218

A

G

intergenic

De novo

-

Yuen2017 G

CHSY3

AU4260303

chr5:
129702621-129702621

C

G

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1350-004

chr5:
130189806-130189806

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

AU3918301

chr5:
129390549-129390549

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHSY3

2-0145-003

chr5:
130461242-130461242

A

T

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0986-003

chr5:
130081195-130081195

A

T

intergenic

De novo

-

Yuen2017 G

CHSY3

2-1406-003

chr5:
129581097-129581097

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHSY3

1-0201-005

chr5:
130273056-130273056

T

C

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0486-003

chr5:
129965121-129965121

T

G

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0531-003

chr5:
130220537-130220537

C

T

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0104-004

chr5:
130461242-130461242

A

T

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0473-003

chr5:
129812303-129812303

G

T

intergenic

De novo

-

Yuen2017 G

CHSY3

REACH000120

chr5:
129338063-129338063

A

G

intronic

De novo

-

Trost2022 G

CHSY3

2-1318-004

chr5:
130461242-130461242

A

T

intergenic

De novo

-

Yuen2017 G

CHSY3

SJD_10.3

chr5:
129365372-129365372

A

T

intronic

De novo

-

Trost2022 G

CHSY3

1-0413-003

chr5:
130300487-130300487

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHSY3

2-1290-004

chr5:
129523464-129523464

A

T

intergenic

De novo

-

Yuen2017 G

CHSY3

REACH000214

chr5:
129324980-129324980

G

T

intronic

De novo

-

Trost2022 G

CHSY3

T2T9E-01

chr5:
129324980-129324980

G

T

intronic

De novo

-

Trost2022 G

CHSY3

5-5209-003

chr5:
129283496-129283496

C

T

intronic

De novo

-

Trost2022 G

CHSY3

5-5180-003

chr5:
129285769-129285769

G

A

intronic

De novo

-

Trost2022 G

CHSY3

AU057503

chr5:
129643054-129643054

A

T

intergenic

De novo

-

Yuen2017 G

CHSY3

7-0396-003

chr5:
129246359-129246359

C

G

intronic

De novo

-

Trost2022 G

CHSY3

2-0304-003

chr5:
129623555-129623555

C

T

intergenic

De novo

-

Yuen2017 G

CHSY3

AU3368302

chr5:
130214977-130214977

G

C

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0654-003

chr5:
129262394-129262394

C

T

intronic

De novo

-

Trost2022 G

CHSY3

2-0013-003

chr5:
129267220-129267220

T

TAATA

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHSY3

2-1818-003

chr5:
129485992-129485992

C

A

intronic

De novo

-

Trost2022 G

CHSY3

2-1129-003

chr5:
130365981-130365981

G

C

intergenic

De novo

-

Yuen2017 G

CHSY3

AU3764302

chr5:
130156329-130156329

A

G

intergenic

De novo

-

Yuen2017 G

CHSY3

AU2323301

chr5:
129519082-129519082

A

G

intronic

De novo

-

Trost2022 G

CHSY3

1-0290-003

chr5:
130000705-130000705

A

G

intergenic

De novo

-

Yuen2017 G

CHSY3

AU2572301

chr5:
129402000-129402000

C

A

intronic

De novo

-

Trost2022 G

CHSY3

5-5014-003

chr5:
129417154-129417154

C

T

intronic

De novo

-

Trost2022 G

CHSY3

5-0024-003

chr5:
129378033-129378033

T

C

intronic

De novo

-

Trost2022 G

CHSY3

AU3790302

chr5:
130319312-130319312

A

G

intergenic

De novo

-

Yuen2017 G

CHSY3

MSSNG00235-003

chr5:
129383998-129383998

A

G

intronic

De novo

-

Trost2022 G

CHSY3

1-0439-003

chr5:
129478143-129478143

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CHSY3

12435.p1

chr5:
129521409-129521409

C

T

exonic

De novo

synonymous SNV

NM_175856

c.C2574T

p.F858F

-

5.808E-5

Iossifov2014 E
Kosmicki2017 E
Zhou2022 GE

CHSY3

2-0307-003

chr5:
129624076-129624076

G

A

intergenic

De novo

-

Yuen2017 G

CHSY3

1-0522-003

chr5:
130175915-130175915

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHSY3

1-0412-003

chr5:
130160723-130160723

C

A

intergenic

De novo

-

Yuen2017 G

CHSY3

2-0285-004

chr5:
129408958-129408958

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

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	View
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