Variant Results

or

or

Results for "CNTNAP1"

Variant Events: 15

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

CNTNAP1

SP0037498

chr17:
40839757-40839757

G

A

exonic

De novo

nonsynonymous SNV

NM_003632

c.G1064A

p.C355Y

22.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CNTNAP1

mAGRE5087

chr17:
40849948-40849948

G

A

exonic

Paternal

stopgain

NM_003632

c.G3842A

p.W1281X

43.0

-

Cirnigliaro2023 G

CNTNAP1

mAGRE5086

chr17:
40849948-40849948

G

A

exonic

Paternal

stopgain

NM_003632

c.G3842A

p.W1281X

43.0

-

Cirnigliaro2023 G

CNTNAP1

5-0131-003

chr17:
40846708-40846708

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CNTNAP1

TRE_2726

chr17:
40844670-40844670

C

T

exonic

De novo

nonsynonymous SNV

NM_003632

c.C2684T

p.P895L

36.0

-

Fu2022 E

CNTNAP1

SP0210936

chr17:
40835989-40835989

G

A

intronic

De novo

-

Trost2022 G

CNTNAP1

SP0061121

chr17:
40848010-40848010

T

G

intronic

De novo

-

-

Fu2022 E

CNTNAP1

SP0065132

chr17:
40843731-40843731

T

G

intronic

De novo

-

-

Fu2022 E

CNTNAP1

G01-GEA-305-HI

chr17:
40835837-40835837

A

G

splicing

De novo

splicing

16.19

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CNTNAP1

Kenny2014:8

chr17:
40844654-40844654

C

T

exonic

Unknown

stopgain

NM_003632

c.C2668T

p.R890X

42.0

Kenny2014 T

CNTNAP1

SP0003687

chr17:
40842780-40842780

C

T

exonic

De novo

nonsynonymous SNV

NM_003632

c.C1879T

p.R627W

12.04

-

Fu2022 E
Zhou2022 GE

CNTNAP1

SP0103630

chr17:
40849584-40849584

T

C

exonic

De novo

nonsynonymous SNV

NM_003632

c.T3581C

p.I1194T

15.96

Fu2022 E
Trost2022 G
Zhou2022 GE

CNTNAP1

AU3839303

chr17:
40842780-40842780

C

T

exonic

De novo

nonsynonymous SNV

NM_003632

c.C1879T

p.R627W

12.04

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CNTNAP1

SP0097266

chr17:
40843045-40843045

G

C

intronic

De novo

-

-

Fu2022 E

CNTNAP1

SP0043871

chr17:
40835809-40835813

GCTGA

G

intronic

De novo

-

-

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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