Variant Results

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Results for "CNTN2"

Variant Events: 13

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

CNTN2

2-1313-003

chr1:
205019302-205019302

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CNTN2

SP0062502

chr1:
205027519-205027519

A

T

intronic

De novo

-

-

Fu2022 E

CNTN2

2-1696-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

CNTN2

2-0088-003

chr1:
205050254-205050258

ATACT

A

intergenic

De novo

-

-

Yuen2017 G

CNTN2

11194.p1

chr1:
205038848-205038848

G

A

intronic

De novo

-

-

Turner2016 G

CNTN2

1333011

chr1:
205034249-205034249

C

T

exonic

De novo

synonymous SNV

NM_005076

c.C1554T

p.A518A

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CNTN2

mAGRE4281

chr1:
205039031-205039031

G

A

exonic

Paternal

stopgain

NM_005076

c.G2273A

p.W758X

43.0

Cirnigliaro2023 G

CNTN2

1-0292-003

chr1:
205038619-205038619

C

T

exonic

De novo

nonsynonymous SNV

NM_005076

c.C2126T

p.A709V

2.805

-

Yuen2015 G

CNTN2

1-0300-003

chr1:
205047698-205047698

G

A

downstream

De novo

-

-

Trost2022 G
Yuen2017 G

CNTN2

2-1529-003

chr1:
205046145-205046145

C

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

CNTN2

MSSNG00413-003

chr1:
205017556-205017556

C

T

intronic

De novo

-

-

Trost2022 G

CNTN2

SP0162354

chr1:
205036288-205036288

A

T

exonic

De novo

nonsynonymous SNV

NM_005076

c.A2035T

p.M679L

18.48

-

Trost2022 G

CNTN2

MSSNG00017-003

chr1:
205025614-205025614

C

T

intronic

De novo

-

-

Trost2022 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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