Variant Results

or

or

Results for "KDM1B"

Variant Events: 19

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

KDM1B

DEASD_0304_001

chr6:
18171678-18171678

C

T

exonic

De novo

stopgain

NM_153042

c.C502T

p.R168X

39.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KDM1B

2-0129-005

chr6:
18184531-18184533

AGT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KDM1B

12228.p1

chr6:
18163084-18163084

C

A

exonic

Mosaic

stopgain

NM_153042

c.C234A

p.Y78X

39.0

Dou2017 E

KDM1B

SP0139095

chr6:
18191431-18191431

C

T

intronic

11.93

-

Zhou2022 GE

KDM1B

7-0095-003

chr6:
18182466-18182466

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KDM1B

SP0139095-DUP

chr6:
18191431-18191431

C

T

intronic

De novo

11.93

-

Fu2022 E

KDM1B

1-0945-003

chr6:
18188272-18188272

C

T

intronic

De novo

-

Trost2022 G

KDM1B

2-0088-003

chr6:
18190201-18190201

T

C

intronic

De novo

-

-

Trost2022 G

KDM1B

AU1894303

chr6:
18185329-18185329

A

G

intronic

De novo

-

-

Yuen2017 G

KDM1B

3-0328-000

chr6:
18181221-18181221

T

A

intronic

De novo

-

-

Trost2022 G

KDM1B

AU050910

chr6:
18171599-18171599

G

A

exonic

De novo

synonymous SNV

NM_153042

c.G423A

p.Q141Q

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

KDM1B

MT_178.3

chr6:
18184920-18184920

T

C

intronic

De novo

-

-

Trost2022 G

KDM1B

REACH000589

chr6:
18172335-18172335

A

G

intronic

De novo

-

-

Trost2022 G

KDM1B

7-0224-003

chr6:
18179496-18179496

A

G

intronic

De novo

-

-

Trost2022 G

KDM1B

SP0001207

chr6:
18218108-18218108

G

A

exonic

De novo

nonsynonymous SNV

NM_153042

c.G1681A

p.A561T

23.1

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

KDM1B

MSSNG00008-004

chr6:
18209982-18209982

G

T

intronic

De novo

-

-

Trost2022 G

KDM1B

AU3764302

chr6:
18210564-18210567

CTTT

CTTTT

intronic

De novo

-

-

Yuen2017 G

KDM1B

2-0088-003

chr6:
18190224-18190227

CACA

T

intronic

De novo

-

-

Trost2022 G

KDM1B

2-0088-003

chr6:
18190324-18190324

T

G

intronic

De novo

-

-

Trost2022 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
	More