Variant Results

or

or

Results for "NTN1"

Variant Events: 18

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

NTN1

AU054303

chr17:
9032655-9032655

G

T

intronic

De novo

-

-

Yuen2017 G

NTN1

SP0083101

chr17:
9124464-9124464

T

TGGGG

intronic

De novo

-

-

Fu2022 E

NTN1

2-1338-003

chr17:
8956834-8956834

C

T

intronic

De novo

-

-

Yuen2017 G

NTN1

2-0002-005

chr17:
9139930-9139930

A

G

intronic

De novo

-

-

Yuen2017 G

NTN1

2-1251-003

chr17:
9089418-9089418

G

A

intronic

De novo

-

-

Yuen2017 G

NTN1

JASD_Fam0095

chr17:
9143210-9143210

G

A

exonic

De novo

synonymous SNV

NM_004822

c.G1740A

p.Q580Q

-

-

Takata2018 E

NTN1

2-1252-003

chr17:
8961118-8961118

A

G

intronic

De novo

-

-

Yuen2017 G

NTN1

1-0546-003

chr17:
8928168-8928182

CAGAGAGAGAGAGAG

CAGAGAGAGAGAG

intronic

De novo

-

-

Yuen2017 G

NTN1

2-0285-004

chr17:
9069390-9069390

C

T

intronic

De novo

-

-

Yuen2017 G

NTN1

2-0713-003

chr17:
9152744-9152744

C

G

intergenic

De novo

-

-

Yuen2017 G

NTN1

70418

chr17:
9083262-9083262

C

A

exonic

De novo

nonsynonymous SNV

NM_004822

c.C1346A

p.A449D

32.0

-

Fu2022 E

NTN1

13717.p1

chr17:
9083262-9083262

C

A

exonic

De novo

nonsynonymous SNV

NM_004822

c.C1346A

p.A449D

32.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

NTN1

1-0277-003

chr17:
9041498-9041498

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NTN1

2-1434-003

chr17:
8997461-8997462

AC

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NTN1

1-0171-005

chr17:
9132241-9132241

G

GACTGTAAGTGTGACTGTGTGAGAC

intronic

De novo

-

-

Yuen2017 G

NTN1

AU3052302

chr17:
8956245-8956245

A

G

intronic

De novo

-

-

Yuen2017 G

NTN1

5-0041-003

chr17:
9117367-9117367

C

T

intronic

De novo

-

-

Yuen2017 G

NTN1

2-1089-003

chr17:
8994242-8994242

C

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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