Variant Results

or

Results for "CEP112"

Variant Events: 72

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

CEP112

1-0479-006

chr17:
63696256-63696262

CGGATAT

C

intronic

De novo

-

Trost2022 G

CEP112

1-0479-006

chr17:
63696266-63696309

CCTAACTAGGTTCTTACCTCTCTAGCCTTCTTTCTATACACTGT

A

intronic

De novo

-

Trost2022 G

CEP112

2-1800-003

chr17:
63672982-63672983

CA

C

intronic

De novo

-

Trost2022 G

CEP112

7-0390-003

chr17:
63691327-63691327

C

T

intronic

De novo

-

Trost2022 G

CEP112

5-0066-003

chr17:
63827739-63827739

A

C

intronic

De novo

-

Trost2022 G

CEP112

3-0322-000

chr17:
63828076-63828076

A

G

intronic

De novo

-

Trost2022 G

CEP112

1-0838-003

chr17:
63805702-63805702

C

T

intronic

De novo

-

Trost2022 G

CEP112

12834.p1

chr17:
64188316-64188316

T

A

upstream

De novo

-

Wilfert2021 G

CEP112

MSSNG00017-004

chr17:
63807358-63807358

G

A

intronic

De novo

-

Trost2022 G

CEP112

3-0396-000

chr17:
63684763-63684763

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G

CEP112

AU2320301

chr17:
63749782-63749783

AT

A

intronic

De novo

-

Trost2022 G

CEP112

MSSNG00116-003

chr17:
63766450-63766450

T

G

intronic

De novo

-

Trost2022 G

CEP112

3-0610-000

chr17:
63715633-63715633

G

A

intronic

De novo

-

Trost2022 G

CEP112

AU3154302

chr17:
64045264-64045264

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

1-1144-003

chr17:
63737056-63737056

T

G

intronic

De novo

-

Trost2022 G

CEP112

14153.p1

chr17:
63959870-63959870

G

A

intronic

De novo

-

Turner2016 G

CEP112

5-0086-003

chr17:
63950676-63950676

G

A

intronic

De novo

-

Trost2022 G

CEP112

13171.p1

chr17:
64024365-64024365

T

C

intronic

De novo

-

Turner2016 G

CEP112

AU1448303

chr17:
63977881-63977881

C

T

intronic

De novo

-

Trost2022 G

CEP112

REACH000327

chr17:
63922932-63922932

G

A

intronic

De novo

-

Trost2022 G

CEP112

14642.p1

chr17:
63737673-63737673

T

C

intronic

De novo

-

Turner2016 G

CEP112

5-0038-003

chr17:
63938095-63938095

A

G

intronic

De novo

-

Trost2022 G

CEP112

7-0410-003

chr17:
63888777-63888777

C

T

intronic

De novo

-

Trost2022 G

CEP112

AU3881301

chr17:
63662881-63662881

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

AU2089302

chr17:
63898181-63898181

G

A

intronic

De novo

-

Trost2022 G

CEP112

MSSNG00216-003

chr17:
63854409-63854409

T

C

intronic

De novo

-

Trost2022 G

CEP112

REACH000559

chr17:
63856265-63856265

A

G

intronic

De novo

-

Trost2022 G

CEP112

1-0202-003

chr17:
64091181-64091181

G

A

intronic

De novo

-

Trost2022 G

CEP112

REACH000293

chr17:
64091588-64091588

G

T

intronic

De novo

-

Trost2022 G

CEP112

4-0092-003

chr17:
64079837-64079837

T

C

intronic

De novo

-

Trost2022 G

CEP112

MSSNG00361-003

chr17:
64085938-64085938

G

C

intronic

De novo

-

Trost2022 G

CEP112

1-1024-003

chr17:
64052924-64052924

T

C

intronic

De novo

-

Trost2022 G

CEP112

63-343

chr17:
64154717-64154717

G

A

intronic

Inherited

-

Michaelson2012 G

CEP112

1029

chr17:
64069358-64069358

G

C

intronic

De novo

-

Trost2022 G

CEP112

1-1105-005

chr17:
63980596-63980596

G

C

intronic

De novo

-

Trost2022 G

CEP112

1-0057-003

chr17:
64004005-64004005

T

A

intronic

De novo

-

Trost2022 G

CEP112

MSSNG00102-003

chr17:
64184862-64184862

A

T

intronic

De novo

-

Trost2022 G

CEP112

3-0078-000

chr17:
64186760-64186760

A

G

intronic

De novo

-

Trost2022 G

CEP112

MSSNG00100-004

chr17:
64134815-64134815

A

C

intronic

De novo

-

Trost2022 G

CEP112

MSSNG00102-003

chr17:
64177573-64177573

C

T

intronic

De novo

-

Trost2022 G

CEP112

5-0061-003

chr17:
64092917-64092917

A

T

intronic

De novo

-

Trost2022 G

CEP112

1-0395-004

chr17:
64176997-64176997

A

T

intronic

De novo

-

Yuen2017 G

CEP112

J4K7A_01

chr17:
64126916-64126916

C

A

intronic

De novo

-

Trost2022 G

CEP112

SP0309414

chr17:
63633310-63633310

G

T

intronic

De novo

-

Tan2024 GE

CEP112

1-0300-004

chr17:
63705523-63705523

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

mAGRE2285

chr17:
63848123-63848124

GT

G

exonic

Paternal

frameshift deletion

NM_001302891
NM_001199165

c.2066delA
c.2192delA

p.H689fs
p.H731fs

-

Cirnigliaro2023 G

CEP112

1-0395-003

chr17:
64176997-64176997

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

SP0143251

chr17:
64023699-64023699

T

C

intronic

De novo

-

0.0012

Tan2024 GE

CEP112

mAGRE4084

chr17:
64049927-64049928

TG

T

exonic

Paternal

frameshift deletion

NM_001302891
NM_001199165

c.1018delC
c.1144delC

p.Q340fs
p.Q382fs

-

Cirnigliaro2023 G

CEP112

mAGRE2999

chr17:
63848123-63848124

GT

G

exonic

Paternal

frameshift deletion

NM_001302891
NM_001199165

c.2066delA
c.2192delA

p.H689fs
p.H731fs

-

Cirnigliaro2023 G

CEP112

1-0572-003

chr17:
63902530-63902549

TATAATAATAATAATAATAA

TATAATAATAATAATAA

intronic

De novo

-

Yuen2017 G

CEP112

mAGRE2997

chr17:
63848123-63848124

GT

G

exonic

Paternal

frameshift deletion

NM_001302891
NM_001199165

c.2066delA
c.2192delA

p.H689fs
p.H731fs

-

Cirnigliaro2023 G

CEP112

1-0010-005

chr17:
63966830-63966830

G

GTATATCACGT

intronic

De novo

-

Yuen2017 G

CEP112

2-1146-003

chr17:
63640965-63640965

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

1-0563-004

chr17:
63910979-63910979

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

MCD-032-4

chr17:
63898448-63898448

A

G

exonic

Paternal

nonsynonymous SNV

NM_001302891
NM_001199165

c.T1859C
c.T1985C

p.V620A
p.V662A

10.67

4.0E-4

Tuncay2023 G

CEP112

AU059903

chr17:
63768637-63768637

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

1-0534-006

chr17:
63966830-63966830

G

GTATATCACGT

intronic

De novo

-

Yuen2017 G

CEP112

IBS-ASD-17593-blood-wgs-ILLUMINA

chr17:
63662774-63662774

C

T

intronic

De novo

-

Kim2024 G

CEP112

MCD-032-4

chr17:
64173136-64173136

G

A

exonic

Maternal

nonsynonymous SNV

NM_001199165
NM_001302891

c.C109T
c.C109T

p.R37W
p.R37W

21.7

1.0E-4

Tuncay2023 G

CEP112

AU4315302

chr17:
64025733-64025733

A

C

intronic

De novo

-

Yuen2017 G

CEP112

1-0405-003

chr17:
64055356-64055356

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

1-0482-003

chr17:
63926567-63926567

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CEP112

2-1246-003

chr17:
63754225-63754225

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

IBS-ASD-19903-blood-wgs-ILLUMINA

chr17:
64200190-64200190

C

T

intergenic

De novo

-

Kim2024 G

CEP112

AU4168306

chr17:
64097186-64097186

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CEP112

IBS-ASD-9743-blood-wgs-ILLUMINA

chr17:
64193966-64193966

A

T

intergenic

De novo

-

Kim2024 G

CEP112

IBS-ASD-17833-blood-wgs-ILLUMINA

chr17:
64170298-64170298

A

G

intronic

De novo

-

Kim2024 G

CEP112

IBS-ASD-19023-blood-wgs-ILLUMINA

chr17:
64147883-64147883

A

G

intronic

De novo

-

Kim2024 G

CEP112

IBS-ASD-18513-blood-wgs-ILLUMINA

chr17:
64121670-64121670

T

C

intronic

De novo

-

Kim2024 G

CEP112

IBS-ASD-30383-blood-wgs-ILLUMINA

chr17:
63947867-63947867

C

CCCCCCCCCCCG

intronic

De novo

-

Kim2024 G

CEP112

IBS-ASD-13463-blood-wgs-ILLUMINA

chr17:
63724554-63724554

C

T

intronic

De novo

-

Kim2024 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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