Variant Results

or

Results for "CNTNAP3"

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

CNTNAP3

1-0604-003

chr9:
39110115-39110115

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP3

F1-003

chr9:
39171471-39171471

C

T

exonic

Paternal

nonsynonymous SNV

NM_033655

c.G1228A

p.G410S

1.861

0.0362

Vaags2012 E

CNTNAP3

AU2975301

chr9:
39078102-39078102

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP3

SP0057841

chr9:
39133065-39133065

G

T

exonic

De novo

nonsynonymous SNV

NM_033655

c.C1944A

p.S648R

2.106

-

Fu2022 E
Zhou2022 GE

CNTNAP3

1-0511-003

chr9:
39089446-39089446

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTNAP3

ASC_11425-1

chr9:
39103704-39103704

T

C

intronic

De novo

-

Fu2022 E

CNTNAP3

REACH000689

chr9:
39105757-39105757

G

C

intronic

De novo

-

Trost2022 G

CNTNAP3

80001103226

chr9:
39100137-39100137

G

GCTAACAAATCTCATAGCTCTGGTGCAAATACAGAGCCCTTTTTATATCTCAAGCCAACATCAGGAGTAACCACTCCTTCATGAGCACAAGT

exonic

De novo

stopgain

NM_033655

c.2765_2766insACTTGTGCTCATGAAGGAGTGGTTACTCCTGATGTTGGCTTGAGATATAAAAAGGGCTCTGTATTTGCACCAGAGCTATGAGATTTGTTAG

p.A922_T923delinsALVLMKEWLLLMLAX

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CNTNAP3

MT_89.3

chr9:
39109511-39109511

C

T

intronic

De novo

-

Trost2022 G

CNTNAP3

MSSNG00098-004

chr9:
39100584-39100587

CAAT

C

intronic

De novo

-

Trost2022 G

CNTNAP3

1-0708-003

chr9:
39123383-39123383

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTNAP3

12574.p1

chr9:
39078705-39078705

G

A

exonic

De novo

stopgain

NM_033655

c.C3655T

p.R1219X

40.0

-

Turner2017 G
Zhou2022 GE

CNTNAP3

AU4496301

chr9:
39105162-39105162

C

T

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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