Variant Results

or

Results for "CIC"

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

CIC

5-5046-003

chr19:
42793123-42793123

G

C

exonic

De novo

nonsynonymous SNV

NM_015125
NM_001304815

c.G1015C
c.G3742C

p.E339Q
p.E1248Q

17.21

-

Trost2022 G
Zhou2022 GE

CIC

SSC02723

chr19:
42791476-42791476

C

T

exonic

De novo

nonsynonymous SNV

NM_015125
NM_001304815

c.C457T
c.C3184T

p.L153F
p.L1062F

14.47

8.251E-6

Fu2022 E
Lim2017 E
Trost2022 G

CIC

SP0039518

chr19:
42791663-42791663

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

CIC

SSC05569

chr19:
42792016-42792016

C

T

exonic

De novo

stopgain

NM_015125
NM_001304815

c.C820T
c.C3547T

p.R274X
p.R1183X

40.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

CIC

SP0073005

chr19:
42795963-42795963

T

C

intronic

De novo

-

Fu2022 E

CIC

3B331

chr19:
42798712-42798712

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CIC

MSSNG00407-003

chr19:
42792463-42792463

C

G

intronic

De novo

-

Trost2022 G

CIC

Wang2023:760

chr19:
42793443-42793443

G

GC

exonic

De novo

frameshift insertion

NM_015125
NM_001304815

c.1246dupC
c.3973dupC

p.R415fs
p.R1324fs

-

Wang2023 E

CIC

SP0116783

chr19:
42798968-42798968

A

G

intronic

-

7.0E-4

Zhou2022 GE

CIC

11483.p1

chr19:
42791476-42791476

C

T

exonic

De novo

nonsynonymous SNV

NM_015125
NM_001304815

c.C457T
c.C3184T

p.L153F
p.L1062F

14.47

8.251E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

CIC

12642.p1

chr19:
42792016-42792016

C

T

exonic

De novo

stopgain

NM_015125
NM_001304815

c.C820T
c.C3547T

p.R274X
p.R1183X

40.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

CIC

1-0514-003

chr19:
42778965-42778965

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CIC

Codina-Sola2015:ASD_35

chr19:
42795707-42795707

C

T

intronic

Unknown

-

Codina-Sola2015 E

CIC

2-1406-003

chr19:
42777517-42777517

C

T

exonic

De novo

stopgain

NM_001304815

c.C1582T

p.R528X

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

CIC

Cukier2014:37037

chr19:
42798982-42798982

C

T

exonic

Unknown

nonsynonymous SNV

NM_015125
NM_001304815

c.C4466T
c.C7193T

p.A1489V
p.A2398V

16.68

8.319E-6

Cukier2014 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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