Variant Results

or

Results for "CNNM2"

Variant Events: 39

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

CNNM2

2-1350-003

chr10:
104754903-104754903

C

CTCCCCCTCCCCCTCCTCT

intronic

De novo

-

Yuen2017 G

CNNM2

3-0508-000

chr10:
104724697-104724697

G

C

intronic

De novo

-

Trost2022 G

CNNM2

AU2320301

chr10:
104737227-104737227

A

T

intronic

De novo

-

Trost2022 G

CNNM2

2-1461-003

chr10:
104783695-104783695

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

AU3794302

chr10:
104734755-104734755

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

2-0202-003

chr10:
104808017-104808018

GC

G

intronic

De novo

-

Trost2022 G

CNNM2

5-0061-003

chr10:
104808066-104808068

AGA

GGG

intronic

De novo

-

Trost2022 G

CNNM2

2-0202-003

chr10:
104808003-104808003

A

G

intronic

De novo

-

Trost2022 G

CNNM2

AU041A

chr10:
104835900-104835900

G

A

exonic

De novo

nonsynonymous SNV

NM_199076
NM_017649

c.G2225A
c.G2291A

p.R742Q
p.R764Q

24.0

-

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

CNNM2

12568.p1

chr10:
104713586-104713586

G

A

intronic

De novo

-

Turner2016 G

CNNM2

2-0202-003

chr10:
104808010-104808010

T

C

intronic

De novo

-

Trost2022 G

CNNM2

7-0258-004

chr10:
104791743-104791743

C

G

intronic

De novo

-

Trost2022 G

CNNM2

7-0394-003

chr10:
104795305-104795305

T

G

intronic

De novo

-

Trost2022 G

CNNM2

4-0082-004

chr10:
104747122-104747122

G

C

intronic

De novo

-

Trost2022 G

CNNM2

7-0150-003

chr10:
104788959-104788959

A

G

intronic

De novo

-

Trost2022 G

CNNM2

2-1408-004

chr10:
104836145-104836145

C

T

intronic

De novo

-

Trost2022 G

CNNM2

MSSNG00027-003

chr10:
104845147-104845147

G

A

intergenic

De novo

-

Trost2022 G

CNNM2

4-0040-004

chr10:
104808066-104808068

AGA

GGG

intronic

De novo

-

Trost2022 G

CNNM2

AU2485305

chr10:
104793222-104793227

CAAATA

CA

intronic

De novo

-

Yuen2017 G

CNNM2

MT_160.3

chr10:
104820953-104820953

C

T

intronic

De novo

-

Trost2022 G

CNNM2

AU4237301

chr10:
104670654-104670654

A

G

intergenic

De novo

-

Yuen2017 G

CNNM2

7-0427-003

chr10:
104679665-104679666

CG

C

exonic

De novo

frameshift deletion

NM_017649
NM_199076
NM_199077

c.1429delG
c.1429delG
c.1429delG

p.G477fs
p.G477fs
p.G477fs

-

Trost2022 G
Zhou2022 GE

CNNM2

3-0018-000

chr10:
104836591-104836591

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

P033

chr10:
104678391-104678391

C

T

exonic

Unknown

nonsynonymous SNV

NM_017649
NM_199076
NM_199077

c.C154T
c.C154T
c.C154T

p.L52F
p.L52F
p.L52F

14.27

-

Long2019 ET

CNNM2

SP0116791

chr10:
104678494-104678494

C

G

exonic

nonsynonymous SNV

NM_017649
NM_199076
NM_199077

c.C257G
c.C257G
c.C257G

p.S86W
p.S86W
p.S86W

22.7

-

Zhou2022 GE

CNNM2

2-1454-003

chr10:
104747073-104747093

CTTATTATTATTATTATTATT

CTTATTATTATTATTATT

intronic

De novo

-

Yuen2017 G

CNNM2

AU3636301

chr10:
104703667-104703667

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

AU4463303

chr10:
104719204-104719204

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

1-0299-003

chr10:
104808249-104808249

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

AU3053301

chr10:
104767260-104767260

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

AU2458303

chr10:
104782108-104782115

CTTTTTTT

CTTTTTT

intronic

De novo

-

Yuen2017 G

CNNM2

SP0096688

chr10:
104809491-104809491

G

A

exonic

De novo

nonsynonymous SNV

NM_017649
NM_199076

c.G1649A
c.G1649A

p.R550Q
p.R550Q

28.8

8.282E-6

Fu2022 E
Zhou2022 GE

CNNM2

SP0031140

chr10:
104679190-104679190

C

T

exonic

De novo

nonsynonymous SNV

NM_017649
NM_199076
NM_199077

c.C953T
c.C953T
c.C953T

p.S318L
p.S318L
p.S318L

24.2

-

Fu2022 E
Zhou2022 GE

CNNM2

SP0046549

chr10:
104809451-104809451

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

CNNM2

SP0124483

chr10:
104809536-104809536

G

A

exonic

De novo

nonsynonymous SNV

NM_017649
NM_199076

c.G1694A
c.G1694A

p.G565E
p.G565E

32.0

-

Fu2022 E
Zhou2022 GE

CNNM2

AU3724302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CNNM2

369-07-108784

chr10:
104678569-104678569

A

G

exonic

De novo

nonsynonymous SNV

NM_017649
NM_199076
NM_199077

c.A332G
c.A332G
c.A332G

p.N111S
p.N111S
p.N111S

10.45

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CNNM2

969_15au

chr10:
104836885-104836885

G

A

exonic

De novo

nonsynonymous SNV

NM_199076
NM_017649

c.G2510A
c.G2576A

p.C837Y
p.C859Y

22.3

-

Fu2022 E

CNNM2

1-0285-004

chr10:
104831077-104831077

G

C

intronic

De novo

-

Trost2022 G
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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