Variant Results

or

Results for "CCDC102B"

Variant Events: 39

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

CCDC102B

2-1174-005B

chr18:
67013989-67013989

T

C

intergenic

De novo

-

Yuen2017 G

CCDC102B

1-0591-003

chr18:
66844309-66844326

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

CCDC102B

2-0149-004

chr18:
66583435-66583435

T

C

intronic

De novo

-

Yuen2017 G

CCDC102B

5-0033-004

chr18:
66386920-66386920

C

G

intronic

De novo

-

Yuen2017 G

CCDC102B

AU073003

chr18:
66578715-66578715

C

T

intronic

De novo

-

Yuen2017 G

CCDC102B

AU2569301

chr18:
66421351-66421351

A

G

intronic

De novo

-

Yuen2017 G

CCDC102B

iHART1710

chr18:
66564666-66564666

G

C

splicing

Paternal

splicing

12.6

-

Ruzzo2019 G

CCDC102B

iHART1713

chr18:
66564666-66564666

G

C

splicing

Paternal

splicing

12.6

-

Ruzzo2019 G

CCDC102B

7-0100-004

chr18:
66547836-66547836

C

G

intronic

De novo

-

Yuen2017 G

CCDC102B

1-0323-004

chr18:
66849517-66849517

C

T

intergenic

De novo

-

Yuen2017 G

CCDC102B

1-0148-005

chr18:
66639684-66639684

T

C

intronic

De novo

-

Yuen2017 G

CCDC102B

2-0215-003

chr18:
67009077-67009103

ACGTTGTGCACATGTACCCTAAAACTT

A

intergenic

De novo

-

Yuen2017 G

CCDC102B

AU066403

chr18:
66819304-66819304

C

A

intergenic

De novo

-

Yuen2017 G

CCDC102B

2-0132-004

chr18:
66729916-66729916

T

C

intergenic

De novo

-

Yuen2017 G

CCDC102B

2-1129-003

chr18:
66419454-66419454

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC102B

2-1452-003

chr18:
66415893-66415893

G

A

intronic

De novo

-

Yuen2017 G

CCDC102B

AU070007

chr18:
66521262-66521262

G

A

intronic

De novo

-

Yuen2017 G

CCDC102B

AU3903302

chr18:
66804564-66804564

C

T

intergenic

De novo

-

Yuen2017 G

CCDC102B

5-0128-003

chr18:
66510308-66510308

A

G

intronic

De novo

-

Yuen2017 G

CCDC102B

13539.p1

chr18:
66692362-66692362

T

C

intronic

De novo

-

Turner2016 G

CCDC102B

2-0144-004

chr18:
66731815-66731815

T

A

intergenic

De novo

-

Yuen2017 G

CCDC102B

2-1169-003

chr18:
66416367-66416367

T

G

intronic

De novo

-

Yuen2017 G

CCDC102B

2-1736-003

chr18:
66909647-66909648

AC

A

intergenic

De novo

-

Yuen2017 G

CCDC102B

AU3637301

chr18:
66923991-66923991

C

A

intergenic

De novo

-

Yuen2017 G

CCDC102B

AU072904

chr18:
66722331-66722332

AT

A

UTR3

De novo

-

Yuen2017 G

CCDC102B

1-0906-003

chr18:
67013200-67013200

C

G

intergenic

De novo

-

Yuen2017 G

CCDC102B

7-0068-003

chr18:
66867491-66867491

C

T

intergenic

De novo

-

Yuen2017 G

CCDC102B

1-0215-006

chr18:
66497384-66497384

C

G

intronic

De novo

-

Yuen2017 G

CCDC102B

09C83748

chr18:
66542034-66542034

G

A

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

CCDC102B

AU053503

chr18:
66498684-66498684

C

T

intronic

De novo

-

Yuen2017 G

CCDC102B

1-0469-005

chr18:
66776237-66776237

G

A

intergenic

De novo

-

Yuen2017 G

CCDC102B

AU3125301

chr18:
66888091-66888091

T

C

intergenic

De novo

-

Yuen2017 G

CCDC102B

1-0201-004

chr18:
66944832-66944832

T

A

intergenic

De novo

-

Yuen2017 G

CCDC102B

AU1542301

chr18:
66588137-66588137

G

A

intronic

De novo

-

Yuen2017 G

CCDC102B

AU4435301

chr18:
66943994-66943994

A

C

intergenic

De novo

-

Yuen2017 G

CCDC102B

60-2027

chr18:
66635187-66635187

C

G

intronic

De novo

-

Michaelson2012 G

CCDC102B

MT_69

chr18:
66504176-66504176

C

G

exonic

Paternal

nonsynonymous SNV

NM_024781
NM_001093729

c.C176G
c.C176G

p.A59G
p.A59G

8.336

0.0016

Toma2013 E

CCDC102B

A17

chr18:
66931412-66931412

C

A

intergenic

De novo

-

Wu2018 G

CCDC102B

5-0146-003

chr18:
66714419-66714419

T

C

intronic

De novo

-

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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