Variant Results

or

Results for "KDM4C"

Variant Events: 91

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

KDM4C

AU1933302

chr9:
7328159-7328159

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

2-1305-003

chr9:
7630679-7630679

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

5-0109-003

chr9:
7246191-7246196

GAAAAA

GAAAAAA

intergenic

De novo

-

Yuen2017 G

KDM4C

5-0148-003

chr9:
7280799-7280799

C

G

intergenic

De novo

-

Yuen2017 G

KDM4C

SP0038516

chr9:
7103817-7103817

T

G

exonic

De novo

nonsynonymous SNV

NM_001304340
NM_001304339
NM_015061

c.T1792G
c.T2557G
c.T2557G

p.W598G
p.W853G
p.W853G

15.76

-

Feliciano2019 E
Fu2022 E

KDM4C

2-1305-003

chr9:
7633775-7633775

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

2-1305-003

chr9:
7634019-7634019

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

2-0081-003

chr9:
7056415-7056415

C

G

intronic

De novo

-

Yuen2017 G

KDM4C

2-1093-009

chr9:
7097751-7097751

G

C

intronic

De novo

-

Yuen2017 G

KDM4C

2-0309-005

chr9:
7292167-7292167

A

G

intergenic

De novo

-

Yuen2017 G

KDM4C

2-1093-009

chr9:
6850639-6850639

C

G

intronic

De novo

-

Yuen2017 G

KDM4C

5-0114-003

chr9:
7613438-7613438

C

A

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0290-003

chr9:
7035289-7035289

T

C

intronic

De novo

-

Yuen2017 G

KDM4C

2-1089-004

chr9:
7089839-7089839

G

T

intronic

De novo

-

Yuen2017 G

KDM4C

3-0428-000

chr9:
7419674-7419674

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

2-1480-003

chr9:
6735384-6735384

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

2-0081-003

chr9:
7666789-7666789

A

G

intergenic

De novo

-

Yuen2017 G

KDM4C

AU3997302

chr9:
7596575-7596575

T

G

intergenic

De novo

-

Yuen2017 G

KDM4C

AU011903

chr9:
7639717-7639717

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

SP0076503

chr9:
6893052-6893052

A

G

intronic

De novo

-

Fu2022 E

KDM4C

5-0003-004

chr9:
6793831-6793831

C

T

intronic

De novo

-

Yuen2017 G

KDM4C

1-0751-003

chr9:
6819444-6819444

G

T

intronic

De novo

-

Yuen2017 G

KDM4C

1-0882-003

chr9:
7547061-7547061

G

C

intergenic

De novo

-

Yuen2017 G

KDM4C

2-1339-003

chr9:
6723204-6723204

T

C

intronic

De novo

-

Yuen2017 G

KDM4C

2-1451-003

chr9:
7197006-7197006

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

3-0428-000

chr9:
7560492-7560492

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

1-0107-003

chr9:
7575885-7575885

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

2-1142-003

chr9:
7178164-7178164

G

C

intergenic

De novo

-

Yuen2017 G

KDM4C

3-0428-000

chr9:
7502062-7502062

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

AU3636301

chr9:
7486199-7486199

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

AU4412302

chr9:
7594212-7594212

G

A

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0969-003

chr9:
6822238-6822238

C

T

intronic

De novo

-

Yuen2017 G

KDM4C

2-0270-004

chr9:
7791746-7791746

G

T

intergenic

De novo

-

Yuen2017 G

KDM4C

A3

chr9:
7600649-7600649

C

G

intergenic

De novo

-

Wu2018 G

KDM4C

AU4173301

chr9:
7748384-7748384

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

IGM10609

chr9:
6849649-6849649

A

G

exonic

De novo

nonsynonymous SNV

NM_001304340
NM_001146695
NM_001146696
NM_001304339
NM_015061

c.A35G
c.A578G
c.A644G
c.A578G
c.A578G

p.D12G
p.D193G
p.D215G
p.D193G
p.D193G

27.1

-

Fu2022 E
Satterstrom2020 E

KDM4C

1-0566-003

chr9:
7411340-7411340

A

T

intergenic

De novo

-

Yuen2017 G

KDM4C

AU3905301

chr9:
7052970-7052970

A

G

intronic

De novo

-

Yuen2017 G

KDM4C

AU4239301

chr9:
7355008-7355008

C

A

intergenic

De novo

-

Yuen2017 G

KDM4C

5-0147-003

chr9:
7256584-7256584

A

G

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0551-003

chr9:
7455364-7455364

C

T

intergenic

De novo

-

Yuen2017 G

KDM4C

14249.p1

chr9:
7130311-7130311

T

C

intronic

Unknown

-

Werling2018 G

KDM4C

AU4173301

chr9:
7186709-7186709

C

T

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0273-004

chr9:
7290939-7290939

G

C

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0162-004

chr9:
6950814-6950814

C

T

intronic

De novo

-

Yuen2017 G

KDM4C

AU1988301

chr9:
6850613-6850613

G

A

intronic

De novo

-

Yuen2017 G

KDM4C

AU3808304

chr9:
6971894-6971894

C

T

intronic

De novo

-

Yuen2017 G

KDM4C

13324.p1

chr9:
7305179-7305179

A

G

intergenic

De novo

-

Turner2016 G

KDM4C

344-05-104641

chr9:
7076480-7076480

A

T

UTR3

De novo

-

Satterstrom2020 E

KDM4C

2-1430-003

chr9:
7377474-7377474

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

13324.p1

chr9:
7305669-7305669

C

G

intergenic

De novo

-

Turner2016 G

KDM4C

1-0534-006

chr9:
7013361-7013373

TTCTTAAAGCCTC

T

intronic

De novo

-

Yuen2017 G

KDM4C

11194.p1

chr9:
7516908-7516908

T

A

intergenic

De novo

-

Turner2016 G

KDM4C

AU1668302

chr9:
7703493-7703493

G

A

intergenic

De novo

-

Yuen2017 G

KDM4C

MT_160

chr9:
6849673-6849673

A

G

exonic

Maternal

nonsynonymous SNV

NM_001304340
NM_001146695
NM_001146696
NM_001304339
NM_015061

c.A59G
c.A602G
c.A668G
c.A602G
c.A602G

p.Y20C
p.Y201C
p.Y223C
p.Y201C
p.Y201C

23.8

-

Toma2013 E

KDM4C

AU4263304

chr9:
7742568-7742568

C

T

intergenic

De novo

-

Yuen2017 G

KDM4C

2-0006-004

chr9:
7194641-7194641

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

AU3874303

chr9:
6752923-6752923

C

G

intronic

De novo

-

Yuen2017 G

KDM4C

1-0269-005

chr9:
6855783-6855783

A

C

intronic

De novo

-

Yuen2017 G

KDM4C

2-1436-003

chr9:
7770126-7770126

C

T

intergenic

De novo

-

Yuen2017 G

KDM4C

3-0456-000

chr9:
7368403-7368403

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

3-0456-000B

chr9:
7368403-7368403

A

T

intergenic

De novo

-

Yuen2017 G

KDM4C

09C81774

chr9:
7013744-7013744

C

G

intronic

De novo

-

9.0E-4

Kosmicki2017 E

KDM4C

1-0269-005

chr9:
7519992-7519992

C

A

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0874-003

chr9:
7136184-7136184

C

T

intronic

De novo

-

Yuen2017 G

KDM4C

2-1268-003

chr9:
6840722-6840722

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KDM4C

1-0534-004

chr9:
7013361-7013373

TTCTTAAAGCCTC

T

intronic

De novo

-

Yuen2017 G

KDM4C

AU069603

chr9:
7271710-7271710

A

T

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0973-003

chr9:
6914205-6914205

A

G

intronic

De novo

-

Yuen2017 G

KDM4C

1-0299-003

chr9:
7035272-7035272

T

C

intronic

De novo

-

Yuen2017 G

KDM4C

2-1451-004

chr9:
7245510-7245510

C

T

intergenic

De novo

-

Yuen2017 G

KDM4C

AU4060306

chr9:
7219703-7219703

T

G

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0186-004

chr9:
7035272-7035272

T

C

intronic

De novo

-

Yuen2017 G

KDM4C

2-1430-003

chr9:
7473140-7473158

TGAGAGAGAGAGAGAGAGA

TGAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

KDM4C

AU4479301

chr9:
7518696-7518696

G

A

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0699-003

chr9:
7330612-7330612

G

T

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0699-003

chr9:
7186731-7186731

T

G

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0303-003

chr9:
7035265-7035265

T

C

intronic

De novo

-

Yuen2017 G

KDM4C

AU1725306

chr9:
7519276-7519276

C

T

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0446-003

chr9:
7035265-7035265

T

C

intronic

De novo

-

Yuen2017 G

KDM4C

2-1715-003

chr9:
6729852-6729852

A

G

intronic

De novo

-

Yuen2017 G

KDM4C

AU4006302

chr9:
6857216-6857216

C

G

intronic

De novo

-

Yuen2017 G

KDM4C

1-0414-005

chr9:
7365715-7365715

A

G

intergenic

De novo

-

Yuen2017 G

KDM4C

2-1720-003

chr9:
7469964-7469966

CAA

CAAA

intergenic

De novo

-

Yuen2017 G

KDM4C

AU3368302

chr9:
6961078-6961078

T

C

intronic

De novo

-

Yuen2017 G

KDM4C

AU4250301

chr9:
6723412-6723412

C

T

intronic

De novo

-

Yuen2017 G

KDM4C

7-0140-003

chr9:
7618259-7618259

C

G

intergenic

De novo

-

Yuen2017 G

KDM4C

AU3951301

chr9:
7266767-7266767

C

T

intergenic

De novo

-

Yuen2017 G

KDM4C

AU4485302

chr9:
7433849-7433850

AC

A

intergenic

De novo

-

Yuen2017 G

KDM4C

1-0604-003

chr9:
7434527-7434527

T

C

intergenic

De novo

-

Yuen2017 G

KDM4C

AU045010

chr9:
6954288-6954288

C

T

intronic

De novo

-

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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