Variant Results

or

or

Results for "KDM2B"

Variant Events: 21

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

KDM2B

08C76787

chr12:
122017917-122017917

C

A

intronic

De novo

-

Satterstrom2020 E

KDM2B

PN400194

chr12:
122018732-122018734

CTG

C

exonic

Unknown

frameshift deletion

NM_032590

c.83_84del

p.T28fs

-

Leblond2019 E

KDM2B

5-0026-003

chr12:
121881631-121881631

G

A

intronic

De novo

-

-

Yuen2017 G

KDM2B

08C74223

chr12:
122017917-122017917

C

A

intronic

De novo

-

Satterstrom2020 E

KDM2B

PN400232

chr12:
122018732-122018734

CTG

C

exonic

Unknown

frameshift deletion

NM_032590

c.83_84del

p.T28fs

-

Leblond2019 E

KDM2B

14008.p1

chr12:
121881979-121881979

G

T

exonic

De novo

nonsynonymous SNV

NM_001005366
NM_032590

c.C2194A
c.C2287A

p.P732T
p.P763T

14.18

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

KDM2B

PN400503

chr12:
122018732-122018734

CTG

C

exonic

Unknown

frameshift deletion

NM_032590

c.83_84del

p.T28fs

-

Leblond2019 E

KDM2B

SSC02909

chr12:
122017956-122017956

A

AT

exonic

frameshift insertion

NM_001005366

c.1dupA

p.M1fs

-

Antaki2022 GE

KDM2B

ASC_11432-1

chr12:
121882342-121882342

G

T

intronic

De novo

-

-

Fu2022 E

KDM2B

14008_p1

chr12:
121881979-121881979

G

T

exonic

De novo

nonsynonymous SNV

NM_001005366
NM_032590

c.C2194A
c.C2287A

p.P732T
p.P763T

14.18

-

Fu2022 E

KDM2B

SP0029586

chr12:
121881901-121881901

C

T

exonic

De novo

nonsynonymous SNV

NM_001005366
NM_032590

c.G2272A
c.G2365A

p.G758S
p.G789S

0.114

Feliciano2019 E
Fu2022 E

KDM2B

1-0190-003

chr12:
121871353-121871353

G

C

intronic

De novo

-

-

Yuen2017 G

KDM2B

2-1112-003

chr12:
121987714-121987714

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KDM2B

1-0215-006

chr12:
121927369-121927369

A

T

intronic

De novo

-

-

Yuen2017 G

KDM2B

PN400280

chr12:
122018732-122018734

CTG

C

exonic

Unknown

frameshift deletion

NM_032590

c.83_84del

p.T28fs

-

Leblond2019 E

KDM2B

131-11-113849

chr12:
121891188-121891188

C

T

intronic

De novo

-

-

Satterstrom2020 E

KDM2B

AU2458303

chr12:
121986979-121986979

G

T

intronic

De novo

-

-

Yuen2017 G

KDM2B

PN400231

chr12:
122018732-122018734

CTG

C

exonic

Unknown

frameshift deletion

NM_032590

c.83_84del

p.T28fs

-

Leblond2019 E

KDM2B

SP0056296

chr12:
122017967-122017967

A

C

UTR5

De novo

-

-

Fu2022 E

KDM2B

SP0059384

chr12:
122017916-122017916

G

A

intronic

De novo

-

Fu2022 E

KDM2B

PN400301

chr12:
122018732-122018734

CTG

C

exonic

Unknown

frameshift deletion

NM_032590

c.83_84del

p.T28fs

-

Leblond2019 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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