Variant Results

or

Results for "VRK2"

Variant Events: 30

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

VRK2

AU005214

chr2:
58138841-58138841

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VRK2

1-1058-003

chr2:
58219107-58219107

A

T

intronic

De novo

-

Trost2022 G

VRK2

5-5027-003

chr2:
58309172-58309172

C

T

intronic

De novo

-

Trost2022 G

VRK2

4-0062-003

chr2:
58168553-58168553

T

A

intronic

De novo

-

Trost2022 G

VRK2

2-1398-003

chr2:
58176665-58176666

TG

AT

intronic

De novo

-

Trost2022 G

VRK2

5-5014-003

chr2:
58159588-58159588

A

G

intronic

De novo

-

Trost2022 G

VRK2

MSSNG00350-003

chr2:
58165186-58165186

C

T

intronic

De novo

-

Trost2022 G

VRK2

11002.p1

chr2:
58238110-58238110

C

G

intronic

De novo

-

Turner2016 G

VRK2

11002.p1

chr2:
58310173-58310173

T

G

intronic

De novo

-

Turner2016 G

VRK2

AU3765303

chr2:
58323175-58323175

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VRK2

74-0688

chr2:
58231224-58231224

T

A

intronic

De novo

-

Michaelson2012 G

VRK2

REACH000735

chr2:
58344509-58344509

G

A

intronic

De novo

-

Trost2022 G

VRK2

1-0018-004

chr2:
58347359-58347359

T

C

intronic

De novo

-

Trost2022 G

VRK2

74-0355

chr2:
58288502-58288502

T

A

intronic

De novo

-

Michaelson2012 G

VRK2

MT_13.3

chr2:
58310545-58310545

C

G

intronic

De novo

-

Trost2022 G

VRK2

7-0328-003

chr2:
58314607-58314607

C

T

intronic

De novo

-

Trost2022 G

VRK2

mAGRE5443

chr2:
58362335-58362335

G

A

splicing

Maternal

splicing

24.3

1.648E-5

Cirnigliaro2023 G

VRK2

mAGRE5442

chr2:
58362335-58362335

G

A

splicing

Maternal

splicing

24.3

1.648E-5

Cirnigliaro2023 G

VRK2

7-0254-003

chr2:
58185323-58185323

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VRK2

AU060403

chr2:
58283018-58283018

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VRK2

AU062204

chr2:
58224826-58224826

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VRK2

1-0721-003

chr2:
58386773-58386773

G

A

exonic

nonsynonymous SNV

NM_001288839
NM_001130480
NM_001130481
NM_001130482
NM_006296
NM_001288836
NM_001288837

c.G1118A
c.G1472A
c.G1472A
c.G1403A
c.G1472A
c.G1118A
c.G1472A

p.R373H
p.R491H
p.R491H
p.R468H
p.R491H
p.R373H
p.R491H

7.839

4.0E-4

Zhou2022 GE

VRK2

AU058105

chr2:
58345437-58345437

G

A

intronic

De novo

-

Yuen2017 G

VRK2

IBS-ASD-30043-blood-wgs-ILLUMINA

chr2:
58365804-58365804

T

G

intronic

De novo

-

Kim2024 G

VRK2

IBS-ASD-4933-blood-wgs-ILLUMINA

chr2:
58338175-58338175

G

T

intronic

De novo

-

Kim2024 G

VRK2

IBS-ASD-19933-blood-wgs-ILLUMINA

chr2:
58222540-58222540

A

G

intronic

De novo

-

Kim2024 G

VRK2

IBS-ASD-19793-blood-wgs-ILLUMINA

chr2:
58198349-58198349

A

G

intronic

De novo

-

Kim2024 G

VRK2

IBS-ASD-9973-blood-wgs-ILLUMINA

chr2:
58193920-58193921

GT

G

intronic

De novo

-

Kim2024 G

VRK2

SP0042592

chr2:
58316729-58316729

T

C

intronic

De novo

-

Fu2022 E

VRK2

AU4164301

Complex Event; expand row to view variants

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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