Variant Results

or

or

Results for "KDM2A"

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

KDM2A

SP0061474

chr11:
67020271-67020271

C

T

exonic

De novo

nonsynonymous SNV

NM_001256405
NM_012308

c.C1558T
c.C2875T

p.L520F
p.L959F

28.7

-

Antaki2022 GE
Fu2022 E

KDM2A

AU043804

chr11:
66922347-66922347

T

C

intronic

De novo

-

-

Yuen2017 G

KDM2A

1-0336-003

chr11:
67001081-67001081

C

T

intronic

De novo

-

-

Yuen2017 G

KDM2A

1-0467-005

chr11:
67001072-67001072

G

GAC

intronic

De novo

-

-

Yuen2017 G

KDM2A

1-0520-003

chr11:
66955759-66955759

C

G

intronic

De novo

-

-

Yuen2017 G

KDM2A

200675277_1082034292

chr11:
67007740-67007740

C

CT

exonic

De novo

frameshift insertion

NM_001256405

c.63dupT

p.S21fs

-

-

Fu2022 E

KDM2A

SSC02035

chr11:
66999298-66999298

G

A

exonic

De novo

nonsynonymous SNV

NM_012308

c.G1346A

p.R449K

5.746

-

Fu2022 E
Lim2017 E

KDM2A

1-0591-003

chr11:
66974788-66974788

A

G

intronic

De novo

-

-

Yuen2017 G

KDM2A

2-1485-004

chr11:
67001042-67001042

G

C

intronic

De novo

-

-

Yuen2017 G

KDM2A

1-0112-004

chr11:
67001042-67001042

G

C

intronic

De novo

-

-

Yuen2017 G

KDM2A

AU3903302

chr11:
66966112-66966112

C

T

intronic

De novo

-

-

Yuen2017 G

KDM2A

1-0464-003

chr11:
66927975-66927975

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KDM2A

200675277@1082034292

chr11:
67007740-67007740

C

CT

exonic

De novo

frameshift insertion

NM_001256405

c.63dupT

p.S21fs

-

-

Satterstrom2020 E

KDM2A

1-0153-005

chr11:
67001042-67001042

G

C

intronic

De novo

-

-

Yuen2017 G

KDM2A

11584.p1

chr11:
66999298-66999298

G

A

exonic

De novo

nonsynonymous SNV

NM_012308

c.G1346A

p.R449K

5.746

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

KDM2A

Chen2017:3

chr11:
67007740-67007740

C

CT

exonic

De novo

frameshift insertion

NM_001256405

c.63dupT

p.S21fs

-

-

Chen2017 E

KDM2A

1-0253-004

chr11:
67001042-67001042

G

C

intronic

De novo

-

-

Yuen2017 G

KDM2A

SP0040988

chr11:
67010491-67010491

G

A

exonic

De novo

synonymous SNV

NM_001256405
NM_012308

c.G174A
c.G1491A

p.E58E
p.E497E

-

-

Fu2022 E

KDM2A

SP0097493

chr11:
67012903-67012903

T

G

exonic

De novo

nonsynonymous SNV

NM_001256405
NM_012308

c.T490G
c.T1807G

p.S164A
p.S603A

17.67

-

Fu2022 E

KDM2A

A2

chr11:
66922167-66922167

C

T

intronic

De novo

-

-

Wu2018 G

KDM2A

1-0675-003

chr11:
66927212-66927212

A

T

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

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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
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