Variant Results

or

Results for "CGNL1"

Variant Events: 59

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

CGNL1

1-0203-003

chr15:
57793485-57793485

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

2-1399-003

chr15:
57743096-57743096

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

1-0546-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

13494.p1

chr15:
57815788-57815788

G

T

exonic

De novo

nonsynonymous SNV

NM_032866
NM_001252335

c.G2817T
c.G2817T

p.M939I
p.M939I

11.9

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E

CGNL1

mAGRE2868

chr15:
57743692-57743702

TTATAGGCTTG

T

exonic

Maternal

frameshift deletion

NM_032866
NM_001252335

c.1804_1808del
c.1804_1808del

p.A602fs
p.A602fs

-

Cirnigliaro2023 G

CGNL1

iHART2868

chr15:
57743692-57743702

TTATAGGCTTG

T

exonic

Maternal

frameshift deletion

NM_032866
NM_001252335

c.1804_1808del
c.1804_1808del

p.A602fs
p.A602fs

-

Ruzzo2019 G

CGNL1

1-0219-003

chr15:
57796616-57796616

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

1-0105-003

chr15:
57733506-57733506

T

C

intronic

De novo

-

Trost2022 G

CGNL1

MSSNG00232-003

chr15:
57733751-57733752

GA

G

intronic

De novo

-

Trost2022 G

CGNL1

MSSNG00094-003

chr15:
57694602-57694602

A

G

intronic

De novo

-

Trost2022 G

CGNL1

1-0105-003

chr15:
57719913-57719913

A

G

intronic

De novo

-

Trost2022 G

CGNL1

1-0203-003

chr15:
57679110-57679112

TTT

C

intronic

De novo

-

Trost2022 G

CGNL1

1-0991-003

chr15:
57760134-57760134

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

4-0054-003

chr15:
57772443-57772447

CAGGA

GCGGTG

intronic

De novo

-

Trost2022 G

CGNL1

1-0054-004

chr15:
57772443-57772447

CAGGA

GCGGTG

intronic

De novo

-

Trost2022 G

CGNL1

1-0054-004

chr15:
57772439-57772439

A

GCCG

intronic

De novo

-

Trost2022 G

CGNL1

1-0541-004

chr15:
57772439-57772439

A

GCCG

intronic

De novo

-

Trost2022 G

CGNL1

7-0058-003

chr15:
57772439-57772439

A

GCCG

intronic

De novo

-

Trost2022 G

CGNL1

4-0054-003

chr15:
57772439-57772439

A

GCCG

intronic

De novo

-

Trost2022 G

CGNL1

REACH000293

chr15:
57740555-57740555

A

T

intronic

De novo

-

Trost2022 G

CGNL1

SSC05666

chr15:
57746056-57746056

A

C

intronic

De novo

-

Trost2022 G

CGNL1

2-1277-003

chr15:
57772712-57772712

T

C

intronic

De novo

-

Trost2022 G

CGNL1

5032

chr15:
57815788-57815788

G

T

exonic

De novo

nonsynonymous SNV

NM_032866
NM_001252335

c.G2817T
c.G2817T

p.M939I
p.M939I

11.9

-

Trost2022 G

CGNL1

2-1277-003

chr15:
57772695-57772697

ACA

GCG

intronic

De novo

-

Trost2022 G

CGNL1

1-0736-003

chr15:
57714960-57714960

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

2-1277-003

chr15:
57772704-57772704

T

C

intronic

De novo

-

Trost2022 G

CGNL1

1-0054-003

chr15:
57772464-57772465

TT

CC

intronic

De novo

-

Trost2022 G

CGNL1

1-0054-003

chr15:
57772641-57772643

TCA

CCG

intronic

De novo

-

Trost2022 G

CGNL1

1-0541-004

chr15:
57772443-57772447

CAGGA

GCGGTG

intronic

De novo

-

Trost2022 G

CGNL1

7-0058-003

chr15:
57772443-57772447

CAGGA

GCGGTG

intronic

De novo

-

Trost2022 G

CGNL1

AU2622301

chr15:
57840414-57840414

G

A

UTR3

De novo

-

Trost2022 G

CGNL1

216287

chr15:
57831886-57831886

C

T

intronic

De novo

-

Trost2022 G

CGNL1

4-0062-003

chr15:
57832661-57832661

G

A

intronic

De novo

-

Trost2022 G

CGNL1

2-0310-004

chr15:
57778278-57778278

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

REACH000650

chr15:
57823311-57823311

G

T

intronic

De novo

-

Trost2022 G

CGNL1

MSSNG00127-004

chr15:
57823316-57823316

C

G

intronic

De novo

-

Trost2022 G

CGNL1

4-0062-003

chr15:
57820086-57820087

CA

AT

intronic

De novo

-

Trost2022 G

CGNL1

5-0091-003

chr15:
57820098-57820098

C

T

intronic

De novo

-

Trost2022 G

CGNL1

AU4079301

chr15:
57814137-57814137

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

PN400282

chr15:
57838308-57838308

T

G

exonic

Unknown

nonsynonymous SNV

NM_032866
NM_001252335

c.T3644G
c.T3644G

p.V1215G
p.V1215G

24.9

0.0075

Leblond2019 E

CGNL1

2-1303-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G
Yuen2017 G

CGNL1

2-0202-003

chr15:
57853488-57853488

A

G

intergenic

De novo

-

Yuen2017 G

CGNL1

AU4215302

chr15:
57686523-57686523

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

5-0147-003

chr15:
57749819-57749819

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

AU4452302

chr15:
57864599-57864599

G

A

intergenic

De novo

-

Yuen2017 G

CGNL1

AU3964302

chr15:
57819501-57819501

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

JASD_Fam0082

chr15:
57810657-57810657

G

C

exonic

De novo

nonsynonymous SNV

NM_032866
NM_001252335

c.G2677C
c.G2677C

p.A893P
p.A893P

13.34

-

Takata2018 E

CGNL1

PN400321

chr15:
57838308-57838308

T

G

exonic

Unknown

nonsynonymous SNV

NM_032866
NM_001252335

c.T3644G
c.T3644G

p.V1215G
p.V1215G

24.9

0.0075

Leblond2019 E

CGNL1

SP0064781

chr15:
57809044-57809044

G

A

exonic

De novo

nonsynonymous SNV

NM_032866
NM_001252335

c.G2470A
c.G2470A

p.V824M
p.V824M

11.18

4.131E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

CGNL1

13418.p1

chr15:
57816830-57816830

C

A

exonic

De novo

nonsynonymous SNV

NM_032866
NM_001252335

c.C2920A
c.C2920A

p.Q974K
p.Q974K

29.6

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CGNL1

13951.p1

chr15:
57874781-57874781

C

G

intergenic

De novo

-

Turner2016 G

CGNL1

SSC07470

chr15:
57816830-57816830

C

A

exonic

De novo

nonsynonymous SNV

NM_032866
NM_001252335

c.C2920A
c.C2920A

p.Q974K
p.Q974K

29.6

-

Fu2022 E
Lim2017 E
Trost2022 G

CGNL1

2-0022-005

chr15:
57801686-57801686

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

DEASD_2161_001

chr15:
57839610-57839610

C

A

exonic

De novo

nonsynonymous SNV

NM_032866
NM_001252335

c.C3831A
c.C3831A

p.S1277R
p.S1277R

15.54

-

Fu2022 E

CGNL1

AU3765302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CGNL1

mAGRE4402

chr15:
57731649-57731650

GC

G

exonic

Paternal

frameshift deletion

NM_032866
NM_001252335

c.1453delC
c.1453delC

p.P485fs
p.P485fs

-

4.0E-4

Cirnigliaro2023 G

CGNL1

mAGRE4400

chr15:
57731649-57731650

GC

G

exonic

Paternal

frameshift deletion

NM_032866
NM_001252335

c.1453delC
c.1453delC

p.P485fs
p.P485fs

-

4.0E-4

Cirnigliaro2023 G

CGNL1

2-1440-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CGNL1

12656.p1

chr15:
57746056-57746056

A

C

intronic

De novo

-

Satterstrom2020 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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