Variant Results

or

Results for "CSMD2"

Variant Events: 47

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

CSMD2

2-0318-003

chr1:
34189979-34189979

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

AU066104

chr1:
34567910-34567910

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

SSC03374

chr1:
34631390-34631391

CG

C

exonic

De novo

frameshift deletion

NM_052896

c.24delC

p.P8fs

-

Trost2022 G

CSMD2

7-0194-003

chr1:
34528681-34528681

T

C

intronic

De novo

-

Yuen2017 G

CSMD2

AU3874302

chr1:
34180790-34180790

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

1-0467-003

chr1:
34147746-34147746

G

T

intronic

De novo

-

Yuen2017 G

CSMD2

133344

chr1:
34099122-34099122

C

A

exonic

nonsynonymous SNV

NM_001281956
NM_052896

c.G5100T
c.G4980T

p.Q1700H
p.Q1660H

20.8

0.001

Woodbury-Smith2022 E

CSMD2

2-1358-003

chr1:
34448232-34448232

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

AU2458302

chr1:
34465627-34465627

G

A

intronic

De novo

-

Yuen2017 G

CSMD2

7-0222-003

chr1:
34520320-34520320

G

A

intronic

De novo

-

Yuen2017 G

CSMD2

1-0772-003

chr1:
34013638-34013638

T

C

intronic

De novo

-

Yuen2017 G

CSMD2

7-0256-003

chr1:
34625306-34625306

A

G

intronic

De novo

-

Yuen2017 G

CSMD2

1-0485-003

chr1:
34524692-34524692

G

A

intronic

De novo

-

Yuen2017 G

CSMD2

1387001

chr1:
34043124-34043124

G

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CSMD2

2-1131-003

chr1:
34212131-34212131

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CSMD2

SMHC02129s000

chr1:
34037186-34037186

G

A

exonic

De novo

nonsynonymous SNV

NM_001281956
NM_052896

c.C7903T
c.C7909T

p.R2635C
p.R2637C

22.5

-

Yuan2023 E

CSMD2

AU4467302

chr1:
34135556-34135556

G

T

intronic

De novo

-

Yuen2017 G

CSMD2

2-0149-003

chr1:
34385245-34385245

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

2-0149-003

chr1:
34044381-34044381

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

1-0513-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2016 G
Yuen2017 G
Yuen2017 G

CSMD2

AU3702307

chr1:
34246194-34246194

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

14332.p1

chr1:
34070979-34070979

G

A

exonic

De novo

synonymous SNV

NM_001281956
NM_052896

c.C6435T
c.C6441T

p.F2145F
p.F2147F

-

8.242E-6

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CSMD2

2-0704-003

chr1:
34321089-34321089

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CSMD2

12030.p1

chr1:
34631390-34631391

CG

C

exonic

De novo

frameshift deletion

NM_052896

c.24delC

p.P8fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

CSMD2

SP0032281

chr1:
34011812-34011812

G

A

exonic

synonymous SNV

NM_052896
NM_001281956

c.C8493T
c.C8925T

p.S2831S
p.S2975S

-

8.885E-6

Zhou2022 GE

CSMD2

1-0169-004

chr1:
34504508-34504508

T

C

intronic

De novo

-

Yuen2017 G

CSMD2

1-0896-003

chr1:
34453325-34453325

G

A

intronic

De novo

-

Yuen2017 G

CSMD2

1-0303-004

chr1:
34180443-34180443

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

AU4467302

chr1:
34135558-34135558

A

T

intronic

De novo

-

Yuen2017 G

CSMD2

2-1350-004

chr1:
34527883-34527883

C

A

intronic

De novo

-

Yuen2017 G

CSMD2

SP0063846

chr1:
34190221-34190221

G

A

exonic

nonsynonymous SNV

NM_001281956
NM_052896

c.C2780T
c.C2660T

p.A927V
p.A887V

34.0

8.238E-6

Zhou2022 GE

CSMD2

14520.p1

chr1:
34023449-34023449

G

A

exonic

synonymous SNV

NM_001281956

c.C8628T

p.F2876F

-

Zhou2022 GE

CSMD2

5-0050-004

chr1:
34042379-34042379

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

SP0068908

chr1:
34401360-34401360

C

A

splicing

34.0

-

Zhou2022 GE

CSMD2

1-0473-003

chr1:
34050834-34050834

T

C

intronic

De novo

-

Yuen2017 G

CSMD2

1-0052-004

chr1:
34472769-34472769

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

AU024607

chr1:
34028298-34028298

A

T

intronic

De novo

-

Yuen2017 G

CSMD2

AU1668302

chr1:
34453039-34453039

G

A

intronic

De novo

-

Yuen2017 G

CSMD2

2-0242-005

chr1:
34023364-34023364

T

C

exonic

De novo

nonsynonymous SNV

NM_001281956

c.A8713G

p.T2905A

11.68

7.214E-5

Yuen2017 G
Zhou2022 GE

CSMD2

AU3905301

chr1:
34101426-34101426

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

14608.p1

chr1:
34158686-34158686

A

C

intronic

De novo

-

8.456E-6

Satterstrom2020 E

CSMD2

2-0145-004

chr1:
34119487-34119487

G

C

intronic

De novo

-

Yuen2017 G

CSMD2

REACH000582

chr1:
34330574-34330574

A

G

intronic

De novo

-

Trost2022 G

CSMD2

1-0045-003

chr1:
34413888-34413888

G

A

intronic

De novo

-

Yuen2017 G

CSMD2

AU1894304

chr1:
34513945-34513945

C

T

intronic

De novo

-

Yuen2017 G

CSMD2

36998

chr1:
34158686-34158686

A

C

intronic

De novo

-

8.456E-6

Trost2022 G

CSMD2

1-0010-005

chr1:
34333453-34333453

G

A

intronic

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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