Variant Results

or

Results for "KDM6B"

Variant Events: 22

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

KDM6B

SP0019310

chr17:
7756573-7756573

C

T

exonic

De novo

nonsynonymous SNV

NM_001080424

c.C4783T

p.R1595C

14.86

-

Feliciano2019 E
Fu2022 E

KDM6B

Mahjani2021:84

chr17:
7751740-7751740

C

T

exonic

stopgain

NM_001080424

c.C2134T

p.Q712X

39.0

-

Mahjani2021 E

KDM6B

SP0037558

chr17:
7756304-7756304

C

T

intronic

De novo

-

Fu2022 E

KDM6B

TAS_F3039Y

chr17:
7756583-7756584

AC

A

exonic

De novo

frameshift deletion

NM_001080424

c.4794delC

p.Y1598fs

-

Fu2022 E
Satterstrom2020 E

KDM6B

Krgovic2022:040353

chr17:
7752805-7752805

G

GTCAG

exonic

De novo

frameshift insertion

NM_001080424

c.3199_3200insTCAG

p.A1067fs

-

Krgovic2022 E

KDM6B

SP0022019

chr17:
7749868-7749868

C

T

intronic

De novo

-

8.335E-6

Fu2022 E

KDM6B

SP0052849

chr17:
7749689-7749689

G

GGGCCGGC

intronic

De novo

-

Fu2022 E

KDM6B

Hu2022:11

chr17:
7752386-7752400

GGGTGGGCCGGAGTG

G

exonic

Unknown

frameshift deletion

NM_001080424

c.2781_2794del

p.R927fs

-

Hu2022 T

KDM6B

11329.p1

chr17:
7749188-7749188

A

G

splicing

De novo

splicing

13.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

KDM6B

13675.p1

chr17:
7755287-7755290

ACTT

A

exonic

De novo

nonframeshift deletion

NM_001080424

c.4185_4187del

p.1395_1396del

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

KDM6B

12683.p1

chr17:
7749188-7749188

A

G

splicing

De novo

splicing

13.0

-

Willsey2013 E

KDM6B

12683.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_001080424
NM_001080424

c.575delG
c.576delG

p.R192fs
p.R192fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

KDM6B

13446.p1

chr17:
7755659-7755659

G

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

KDM6B

SSC05540

chr17:
7749921-7749922

CG

C

exonic

De novo

frameshift deletion

NM_001080424

c.575delG

p.R192fs

-

Fu2022 E

KDM6B

DEASD_0146_001

chr17:
7755277-7755277

G

A

exonic

De novo

nonsynonymous SNV

NM_001080424

c.G4174A

p.E1392K

20.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

KDM6B

DEASD_0129_001

chr17:
7755289-7755289

T

A

exonic

De novo

nonsynonymous SNV

NM_001080424

c.T4186A

p.F1396I

20.1

-

Fu2022 E
Satterstrom2020 E

KDM6B

MT_48.3

chr17:
7749562-7749562

C

T

exonic

stopgain

NM_001080424

c.C403T

p.R135X

37.0

-

Antaki2022 GE

KDM6B

SSC02193

chr17:
7749188-7749188

A

G

splicing

13.0

-

Antaki2022 GE

KDM6B

11329_p1

chr17:
7749188-7749188

A

G

splicing

De novo

splicing

13.0

-

Fu2022 E

KDM6B

C221803

chr17:
7750647-7750666

AACCACCGCCTGCGTGCCTT

A

exonic

De novo

frameshift deletion

NM_001080424

c.1135_1153del

p.T379fs

-

Fu2022 E

KDM6B

13446_p1

chr17:
7755659-7755659

G

C

intronic

De novo

-

Fu2022 E

KDM6B

13675_p1

chr17:
7755287-7755290

ACTT

A

exonic

De novo

nonframeshift deletion

NM_001080424

c.4185_4187del

p.1395_1396del

-

Fu2022 E

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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