Variant Results

or

Results for "MEIS2"

Variant Events: 58

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

MEIS2

2-1094-004

chr15:
37242546-37242546

G

A

exonic

De novo

nonsynonymous SNV

NM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_172316
NM_001220482

c.C917T
c.C917T
c.C956T
c.C956T
c.C956T
c.C956T
c.C692T
c.C956T

p.T306I
p.T306I
p.T319I
p.T319I
p.T319I
p.T319I
p.T231I
p.T319I

19.38

-

Wang2020 T
Yuen2017 G

MEIS2

AU4485302

chr15:
37634396-37634396

T

C

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0467-005

chr15:
38051503-38051503

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

2-0070-003

chr15:
38133507-38133507

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

2-1169-003

chr15:
37616644-37616644

C

T

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0065-004

chr15:
37985459-37985459

G

GATT

intergenic

De novo

-

Yuen2017 G

MEIS2

2-1722-003

chr15:
37696960-37696960

C

T

intergenic

De novo

-

Yuen2017 G

MEIS2

AU3727302

chr15:
37342951-37342951

T

A

intronic

De novo

-

Yuen2017 G

MEIS2

SP0026296

chr15:
37385901-37385901

G

A

exonic

De novo

stopgain

NM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_172316
NM_001220482

c.C481T
c.C481T
c.C520T
c.C520T
c.C520T
c.C520T
c.C256T
c.C520T

p.R161X
p.R161X
p.R174X
p.R174X
p.R174X
p.R174X
p.R86X
p.R174X

40.0

-

Feliciano2019 E

MEIS2

5-0148-003

chr15:
37972035-37972035

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

AU4211304

chr15:
37402594-37402594

A

T

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0158-003

chr15:
37292979-37292979

G

A

intronic

De novo

-

Yuen2017 G

MEIS2

AU4015302

chr15:
37640465-37640465

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

3-0456-000

chr15:
37738882-37738883

AG

A

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0092-004

chr15:
37429572-37429572

C

T

intergenic

De novo

-

Yuen2017 G

MEIS2

SF0018947.p1

chr15:
37385901-37385901

G

A

exonic

De novo

stopgain

NM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_172316
NM_001220482

c.C481T
c.C481T
c.C520T
c.C520T
c.C520T
c.C520T
c.C256T
c.C520T

p.R161X
p.R161X
p.R174X
p.R174X
p.R174X
p.R174X
p.R86X
p.R174X

40.0

-

Wang2020 T

MEIS2

AU2035302

chr15:
37816665-37816665

A

G

intergenic

De novo

-

Yuen2017 G

MEIS2

AU4306302

chr15:
38133460-38133460

T

A

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0412-003

chr15:
37617954-37617954

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

AU3399303

chr15:
38222404-38222404

A

T

intergenic

De novo

-

Yuen2017 G

MEIS2

7-0102-003

chr15:
37373593-37373593

T

C

intronic

De novo

-

Yuen2017 G

MEIS2

1-0049-004

chr15:
37876608-37876608

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

AU4027306

chr15:
37301216-37301216

C

T

intronic

De novo

-

Yuen2017 G

MEIS2

1-0627-004

chr15:
37214694-37214694

C

T

intronic

De novo

-

Yuen2017 G

MEIS2

7-0078-003

chr15:
37663576-37663576

C

T

intergenic

De novo

-

Yuen2017 G

MEIS2

AU1933301

chr15:
37390021-37390021

C

T

intronic

De novo

-

Yuen2017 G

MEIS2

AU2035301

chr15:
37816665-37816665

A

G

intergenic

De novo

-

Yuen2017 G

MEIS2

AU4483301

chr15:
37217300-37217300

A

G

intronic

De novo

-

Yuen2017 G

MEIS2

11089.p1

chr15:
37322113-37322113

C

A

intronic

De novo

-

Turner2016 G

MEIS2

80001104520-31

chr15:
37184485-37184485

G

A

exonic

De novo

synonymous SNV

NM_170675
NM_170676
NM_001220482

c.C1323T
c.C1302T
c.C1302T

p.H441H
p.H434H
p.H434H

-

4.945E-5

Satterstrom2020 E

MEIS2

13171.p1

chr15:
38148537-38148537

T

A

intergenic

De novo

-

Turner2016 G

MEIS2

2-1581-003

chr15:
37977890-37977890

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

14104.p1

chr15:
37187308-37187308

T

G

intronic

De novo

-

2.0E-4

Satterstrom2020 E

MEIS2

1-0439-003

chr15:
38096391-38096391

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MEIS2

AU026604

chr15:
37194530-37194530

A

T

intronic

De novo

-

Yuen2017 G

MEIS2

3-0431-000

chr15:
37680558-37680558

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MEIS2

7-0171-003

chr15:
37592404-37592404

C

G

intergenic

De novo

-

Yuen2017 G

MEIS2

2-1386-003

chr15:
37476370-37476370

T

C

intergenic

De novo

-

Yuen2017 G

MEIS2

2-1422-003

chr15:
37380139-37380139

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MEIS2

2-1129-003

chr15:
38114105-38114105

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MEIS2

2-1288-003

chr15:
37524741-37524741

C

T

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0479-006

chr15:
38009164-38009164

C

T

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0868-003

chr15:
37314588-37314588

C

A

intronic

De novo

-

Yuen2017 G

MEIS2

2-1105-003

chr15:
37285134-37285134

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MEIS2

2-1164-003

chr15:
38041661-38041661

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MEIS2

11469.p1

chr15:
37685923-37685927

ATTTG

A

intergenic

De novo

-

Wilfert2021 G

MEIS2

2-0208-003

chr15:
37686129-37686129

C

G

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0454-003

chr15:
37531103-37531103

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MEIS2

HN0265.p1

chr15:
37388610-37388610

T

C

splicing;exonic

Paternal

synonymous SNV

NM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_001220482

c.A228G
c.A228G
c.A267G
c.A267G
c.A267G
c.A267G
c.A267G

p.L76L
p.L76L
p.L89L
p.L89L
p.L89L
p.L89L
p.L89L

16.66

1.667E-5

Wang2020 T
Wang2020 T

MEIS2

2-1194-003

chr15:
37782045-37782045

T

C

intergenic

De novo

-

Yuen2016 G

MEIS2

AU3053302

chr15:
37802499-37802499

C

T

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0065-005

chr15:
37985459-37985459

G

GATT

intergenic

De novo

-

Yuen2017 G

MEIS2

AU3955303

chr15:
37401473-37401473

T

C

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0652-004

chr15:
37707896-37707896

G

T

intergenic

De novo

-

Yuen2017 G

MEIS2

AU031203

chr15:
37794221-37794221

A

C

intergenic

De novo

-

Yuen2017 G

MEIS2

1-0161-004

chr15:
37529885-37529885

G

A

intergenic

De novo

-

Yuen2017 G

MEIS2

NDAR_INVGL083HPA_wes1

chr15:
37187026-37187026

T

TA

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

MEIS2

1-0246-005

chr15:
37935940-37935940

G

C

intergenic

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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