Variant Results

or

Results for "CIT"

Variant Events: 26

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

CIT

AU4173301

chr12:
120253174-120253174

T

C

intronic

De novo

-

Yuen2017 G

CIT

12087.p1

chr12:
120156179-120156179

A

G

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.T3913C
c.T4039C

p.S1305P
p.S1347P

16.62

8.291E-6

Ji2016 E
Krumm2015 E
Satterstrom2020 E

CIT

Codina-Sola2015:ASD_34

chr12:
120190054-120190054

T

TGA

splicing

Unknown

splicing

-

0.0346

Codina-Sola2015 E

CIT

2-1342-003

chr12:
120218141-120218141

G

A

intronic

De novo

-

Yuen2017 G

CIT

1-0325-003

chr12:
120201230-120201230

A

T

intronic

De novo

-

Yuen2017 G

CIT

2-0318-004

chr12:
120273959-120273994

TGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG

T

intronic

De novo

-

Yuen2017 G

CIT

SP0075689

chr12:
120152127-120152127

C

T

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.G4055A
c.G4181A

p.R1352H
p.R1394H

27.5

4.121E-5

Fu2022 E

CIT

AU3915301

chr12:
120391237-120391237

G

A

intergenic

De novo

-

Yuen2017 G

CIT

SP0033904

chr12:
120128144-120128144

G

A

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.C5872T
c.C5998T

p.R1958C
p.R2000C

29.6

-

Fu2022 E

CIT

F7938-1

chr12:
120295305-120295308

CATG

C

intronic

De novo

-

Satterstrom2020 E

CIT

SP0072416

chr12:
120138605-120138605

G

A

exonic

De novo

synonymous SNV

NM_007174
NM_001206999

c.C5442T
c.C5568T

p.Y1814Y
p.Y1856Y

10.84

4.947E-5

Fu2022 E

CIT

11940.p1

chr12:
120156083-120156083

A

G

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.T4009C
c.T4135C

p.S1337P
p.S1379P

19.22

-

Satterstrom2020 E

CIT

EGAN00001101419

chr12:
120137659-120137659

C

T

intronic

De novo

-

Satterstrom2020 E

CIT

7-0183-003

chr12:
120423871-120423871

A

T

intergenic

De novo

-

Yuen2017 G

CIT

GEA461

chr12:
120214175-120214175

G

A

exonic

De novo

nonsynonymous SNV

NM_001206999
NM_007174

c.C1874T
c.C1874T

p.A625V
p.A625V

9.291

2.473E-5

Fu2022 E

CIT

11117.p1

chr12:
120138518-120138518

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

CIT

SSC03133

chr12:
120138518-120138518

A

G

intronic

De novo

-

Lim2017 E

CIT

SSC06202

chr12:
120172026-120172026

T

C

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.A3167G
c.A3293G

p.Q1056R
p.Q1098R

13.04

-

Fu2022 E
Lim2017 E

CIT

SSC03844

chr12:
120156179-120156179

A

G

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.T3913C
c.T4039C

p.S1305P
p.S1347P

16.62

8.291E-6

Fu2022 E
Lim2017 E

CIT

iHART3201

chr12:
120271891-120271891

G

A

exonic

Paternal

stopgain

NM_001206999
NM_007174

c.C658T
c.C658T

p.R220X
p.R220X

37.0

3.384E-5

Ruzzo2019 G

CIT

AU3051303

chr12:
120373975-120373975

A

G

intergenic

De novo

-

Yuen2017 G

CIT

iHART3202

chr12:
120271891-120271891

G

A

exonic

Paternal

stopgain

NM_001206999
NM_007174

c.C658T
c.C658T

p.R220X
p.R220X

37.0

3.384E-5

Ruzzo2019 G

CIT

G01-GEA-186-HI

chr12:
120168331-120168331

T

C

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.A3329G
c.A3455G

p.Q1110R
p.Q1152R

12.32

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

CIT

Cukier2014:7637

chr12:
120220431-120220431

C

T

exonic

Unknown

nonsynonymous SNV

NM_001206999
NM_007174

c.G1556A
c.G1556A

p.R519Q
p.R519Q

33.0

8.244E-6

Cukier2014 E

CIT

5-0084-003

chr12:
120224691-120224691

C

T

intronic

De novo

-

Yuen2017 G

CIT

12840.p1

chr12:
120172026-120172026

T

C

exonic

De novo

nonsynonymous SNV

NM_007174
NM_001206999

c.A3167G
c.A3293G

p.Q1056R
p.Q1098R

13.04

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 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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