Variant Results

or

Results for "NTNG1"

Variant Events: 51

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

NTNG1

2-0014-003

chr1:
107810993-107810993

C

T

intronic

De novo

-

Trost2022 G

NTNG1

MSSNG00212-003

chr1:
107802498-107802498

C

G

intronic

De novo

-

Trost2022 G

NTNG1

REACH000435

chr1:
107881319-107881319

G

A

intronic

De novo

-

Trost2022 G

NTNG1

2-1066-004

chr1:
108094751-108094751

C

T

intergenic

De novo

-

Yuen2017 G

NTNG1

AU018010

chr1:
107702448-107702448

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

MSSNG00025-003

chr1:
107833795-107833795

A

AG

intronic

De novo

-

Trost2022 G

NTNG1

7-0485-003

chr1:
107769122-107769122

G

A

intronic

De novo

-

Trost2022 G

NTNG1

MSSNG00341-003

chr1:
107745402-107745402

A

G

intronic

De novo

-

Trost2022 G

NTNG1

2-0296-003

chr1:
107717637-107717637

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

AU2828301

chr1:
107797145-107797145

C

T

intronic

De novo

-

Trost2022 G

NTNG1

AU011021

chr1:
107790047-107790047

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

1-0562-003

chr1:
107777963-107777963

A

C

intronic

De novo

-

Trost2022 G

NTNG1

AU3840302

chr1:
107983784-107983784

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

7-0328-003

chr1:
107945440-107945440

C

A

intronic

De novo

-

Trost2022 G

NTNG1

AU4273304

chr1:
107897673-107897673

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

SJD_46.3

chr1:
107942677-107942677

C

T

intronic

De novo

-

Trost2022 G

NTNG1

AU3903302

chr1:
107695041-107695041

A

G

intronic

De novo

-

Yuen2017 G

NTNG1

1-0090-003

chr1:
107980231-107980231

A

G

intronic

De novo

-

Trost2022 G

NTNG1

3-0416-000

chr1:
107970328-107970328

C

A

intronic

De novo

-

Trost2022 G

NTNG1

AU3636301

chr1:
107931804-107931804

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

3-0153-000

chr1:
107910745-107910745

T

C

intronic

De novo

-

Trost2022 G

NTNG1

4-0064-003

chr1:
107886691-107886691

C

T

intronic

De novo

-

Trost2022 G

NTNG1

MSSNG00030-003

chr1:
107932515-107932515

T

C

intronic

De novo

-

Trost2022 G

NTNG1

7-0071-003

chr1:
107925782-107925782

C

CT

intronic

De novo

-

Trost2022 G

NTNG1

1-0497-003

chr1:
107806693-107806705

CCTCTCTCTCTCT

CCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

NTNG1

AU2463301

chr1:
107996026-107996026

C

T

intronic

De novo

-

Trost2022 G

NTNG1

1-0288-004

chr1:
107981535-107981535

C

T

intronic

De novo

-

Trost2022 G

NTNG1

AU2569303

chr1:
107862364-107862364

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

MSSNG00087-003

chr1:
108006291-108006291

A

G

intronic

De novo

-

Trost2022 G

NTNG1

2-1281-003

chr1:
107888868-107888868

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

MSSNG00171-003

chr1:
108006077-108006077

T

G

intronic

De novo

-

Trost2022 G

NTNG1

AU4487302

chr1:
108057404-108057404

C

G

intergenic

De novo

-

Yuen2017 G

NTNG1

1-0054-004

chr1:
108000159-108000159

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

AU074503

chr1:
108057087-108057087

C

G

intergenic

De novo

-

Yuen2017 G

NTNG1

12532.p1

chr1:
107691283-107691283

A

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001113226
NM_001113228
NM_001312688
NM_014917

c.A68G
c.A68G
c.A68G
c.A68G

p.Y23C
p.Y23C
p.Y23C
p.Y23C

19.13

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

NTNG1

11660.p1

chr1:
107867061-107867061

C

T

exonic

De novo

nonsynonymous SNV

NM_001113226
NM_001113228
NM_001312688
NM_014917

c.C404T
c.C404T
c.C404T
c.C404T

p.T135I
p.T135I
p.T135I
p.T135I

22.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NTNG1

2-1323-003

chr1:
108047819-108047819

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NTNG1

1-0531-003

chr1:
108002626-108002626

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NTNG1

12412.p1

chr1:
107693895-107693895

A

G

intronic

De novo

-

Werling2018 G

NTNG1

5-0055-004

chr1:
107922932-107922932

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

5028

chr1:
107867061-107867061

C

T

exonic

De novo

nonsynonymous SNV

NM_001113226
NM_001113228
NM_001312688
NM_014917

c.C404T
c.C404T
c.C404T
c.C404T

p.T135I
p.T135I
p.T135I
p.T135I

22.4

-

Fu2022 E
Trost2022 G

NTNG1

2-0304-003

chr1:
107712342-107712342

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

Lim2017:5028

chr1:
107867061-107867061

C

T

exonic

De novo

nonsynonymous SNV

NM_001113226
NM_001113228
NM_001312688
NM_014917

c.C404T
c.C404T
c.C404T
c.C404T

p.T135I
p.T135I
p.T135I
p.T135I

22.4

-

Lim2017 E

NTNG1

SP0140723

chr1:
107867581-107867581

T

G

intronic

De novo

-

Fu2022 E

NTNG1

2-1346-003

chr1:
108060325-108060325

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NTNG1

1-0572-003

chr1:
107967839-107967839

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NTNG1

2-1506-003

chr1:
107822700-107822700

A

T

intronic

De novo

-

Yuen2017 G

NTNG1

7-0250-003A

chr1:
107683404-107683404

A

G

intronic

De novo

-

Trost2022 G

NTNG1

7-0465-003

chr1:
107729331-107729331

T

C

intronic

De novo

-

Trost2022 G

NTNG1

1-0405-003

chr1:
107711853-107711856

GGAA

TGCTTCC

intronic

De novo

-

Trost2022 G

NTNG1

2-1348-003

chr1:
107936817-107936817

T

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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