Variant Results

or

Results for "GON4L"

Variant Events: 27

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

GON4L

NDAR_INVEB022VLQ_wes1

chr1:
155734686-155734686

G

T

exonic

De novo

synonymous SNV

NM_001282861
NM_032292

c.C4578A
c.C4578A

p.I1526I
p.I1526I

-

Lim2017 E

GON4L

1-0508-003

chr1:
155811902-155811902

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GON4L

SSC07823

chr1:
155792248-155792248

T

G

exonic

De novo

nonsynonymous SNV

NM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292

c.A717C
c.A717C
c.A717C
c.A717C
c.A717C

p.E239D
p.E239D
p.E239D
p.E239D
p.E239D

15.2

-

Fu2022 E
Lim2017 E
Trost2022 G

GON4L

SSC02037

chr1:
155736011-155736011

G

A

exonic

De novo

synonymous SNV

NM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292

c.C3253T
c.C3253T
c.C3253T
c.C3253T
c.C3253T

p.L1085L
p.L1085L
p.L1085L
p.L1085L
p.L1085L

-

Fu2022 E
Lim2017 E
Trost2022 G

GON4L

SP0000301

chr1:
155737421-155737421

G

T

intronic

De novo

-

Fu2022 E

GON4L

SP0110067

chr1:
155722366-155722366

C

T

exonic

De novo

nonsynonymous SNV

NM_001282856
NM_001282858
NM_001282860

c.G5858A
c.G5855A
c.G5858A

p.G1953E
p.G1952E
p.G1953E

3.412

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GON4L

1-0595-004

chr1:
155795258-155795258

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GON4L

SP0060098

chr1:
155726766-155726766

C

A

exonic

De novo

nonsynonymous SNV

NM_001282856
NM_001282858
NM_001282860

c.G5500T
c.G5500T
c.G5500T

p.V1834F
p.V1834F
p.V1834F

15.95

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GON4L

SP0014142

chr1:
155722364-155722364

T

C

exonic

nonsynonymous SNV

NM_001282856
NM_001282858
NM_001282860

c.A5860G
c.A5857G
c.A5860G

p.S1954G
p.S1953G
p.S1954G

1.91

2.0E-4

Zhou2022 GE

GON4L

AU2248301

chr1:
155779800-155779800

T

A

intronic

De novo

-

Trost2022 G

GON4L

2-0162-003

chr1:
155751638-155751638

C

G

intronic

De novo

-

Trost2022 G

GON4L

4-0095-003

chr1:
155805393-155805393

T

C

intronic

De novo

-

Trost2022 G

GON4L

AU2248301

chr1:
155779803-155779803

T

A

intronic

De novo

-

Trost2022 G

GON4L

2-1258-003

chr1:
155733195-155733198

GTCA

TCTT

exonic

De novo

nonframeshift substitution

NM_001282856
NM_001282858
NM_001282860

c.4631_4634AAGA
c.4631_4634AAGA
c.4631_4634AAGA

N/A
N/A
N/A

-

Trost2022 G

GON4L

AU4159302

chr1:
155722729-155722729

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GON4L

11869.p1

chr1:
155735530-155735530

A

C

exonic

De novo

nonsynonymous SNV

NM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292

c.T3734G
c.T3734G
c.T3734G
c.T3734G
c.T3734G

p.L1245R
p.L1245R
p.L1245R
p.L1245R
p.L1245R

15.28

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

GON4L

AU4462302

chr1:
155812756-155812756

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GON4L

11060.p1

Complex Event; expand row to view variants

De novo

synonymous SNV

NM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292

c.C3253T
c.C3253T
c.C3253T
c.C3253T
c.C3253T

p.L1085L
p.L1085L
p.L1085L
p.L1085L
p.L1085L

-

Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GON4L

13400.p1

chr1:
155792248-155792248

T

G

exonic

De novo

nonsynonymous SNV

NM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292

c.A717C
c.A717C
c.A717C
c.A717C
c.A717C

p.E239D
p.E239D
p.E239D
p.E239D
p.E239D

15.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GON4L

G01-GEA-222-HI

chr1:
155730185-155730185

C

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

GON4L

3-0544-000

chr1:
155815917-155815917

A

G

intronic

De novo

-

Trost2022 G

GON4L

2-1206-003

chr1:
155772906-155772906

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GON4L

1-0372-003

chr1:
155744615-155744615

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GON4L

AU056003

chr1:
155726632-155726632

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GON4L

2-1389-003

chr1:
155778353-155778353

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GON4L

2-1629-003

chr1:
155750435-155750435

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GON4L

11869_p1

chr1:
155735530-155735530

A

C

exonic

De novo

nonsynonymous SNV

NM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292

c.T3734G
c.T3734G
c.T3734G
c.T3734G
c.T3734G

p.L1245R
p.L1245R
p.L1245R
p.L1245R
p.L1245R

15.28

-

Fu2022 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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