Variant Results

or

Results for "CCDC129"

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

CCDC129

1-0512-003

chr7:
31615768-31615768

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC129

iHART3292

chr7:
31611801-31611802

AG

A

exonic

Maternal

frameshift deletion

NM_194300
NM_001257968
NM_001257967

c.395delG
c.473delG
c.425delG

p.S132fs
p.S158fs
p.S142fs

-

Ruzzo2019 G

CCDC129

iHART3290

chr7:
31611801-31611802

AG

A

exonic

Maternal

frameshift deletion

NM_194300
NM_001257968
NM_001257967

c.395delG
c.473delG
c.425delG

p.S132fs
p.S158fs
p.S142fs

-

Ruzzo2019 G

CCDC129

1-0978-003

chr7:
31702955-31702955

A

G

intergenic

De novo

-

Yuen2017 G

CCDC129

mAGRE2542

chr7:
31617485-31617485

C

T

exonic

Paternal

stopgain

NM_194300
NM_001257968
NM_001257967

c.C607T
c.C685T
c.C637T

p.R203X
p.R229X
p.R213X

46.0

9.894E-6

Cirnigliaro2023 G

CCDC129

AU4093304

chr7:
31611801-31611802

AG

A

exonic

Maternal

frameshift deletion

NM_194300
NM_001257968
NM_001257967

c.395delG
c.473delG
c.425delG

p.S132fs
p.S158fs
p.S142fs

-

Cirnigliaro2023 G

CCDC129

iHART2542

chr7:
31617485-31617485

C

T

exonic

Paternal

stopgain

NM_194300
NM_001257968
NM_001257967

c.C607T
c.C685T
c.C637T

p.R203X
p.R229X
p.R213X

46.0

9.894E-6

Ruzzo2019 G

CCDC129

AU4093302

chr7:
31611801-31611802

AG

A

exonic

Maternal

frameshift deletion

NM_194300
NM_001257968
NM_001257967

c.395delG
c.473delG
c.425delG

p.S132fs
p.S158fs
p.S142fs

-

Cirnigliaro2023 G

CCDC129

MSSNG00077-004

chr7:
31613761-31613761

T

C

intronic

De novo

-

Trost2022 G

CCDC129

5-0072-003

chr7:
31656680-31656681

TA

T

intronic

De novo

-

Trost2022 G

CCDC129

4-0003-003

chr7:
31559570-31559570

C

T

intronic

De novo

-

Trost2022 G

CCDC129

3-0752-000

chr7:
31594720-31594720

G

A

intronic

De novo

-

Trost2022 G

CCDC129

AU2405301

chr7:
31696325-31696325

C

T

intronic

De novo

-

Trost2022 G

CCDC129

MSSNG00030-003

chr7:
31677275-31677275

G

A

intronic

De novo

-

Trost2022 G

CCDC129

12698.p1

chr7:
31691581-31691581

C

T

exonic

De novo

nonsynonymous SNV

NM_194300
NM_001257968
NM_001257967

c.C2740T
c.C2818T
c.C2770T

p.R914C
p.R940C
p.R924C

14.99

0.0017

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

CCDC129

SSC06093

chr7:
31691581-31691581

C

T

exonic

De novo

nonsynonymous SNV

NM_194300
NM_001257968
NM_001257967

c.C2740T
c.C2818T
c.C2770T

p.R914C
p.R940C
p.R924C

14.99

0.0017

Trost2022 G

CCDC129

5-1008-003

chr7:
31666932-31666932

C

A

intronic

De novo

-

Trost2022 G

CCDC129

2-1076-004

chr7:
31673567-31673567

A

G

intronic

De novo

-

Trost2022 G

CCDC129

SP0118852

chr7:
31617623-31617623

C

T

exonic

nonsynonymous SNV

NM_194300
NM_001257968
NM_001257967

c.C745T
c.C823T
c.C775T

p.H249Y
p.H275Y
p.H259Y

16.89

3.32E-5

Zhou2022 GE

CCDC129

1-0744-003

chr7:
31628417-31628417

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC129

11194.p1

chr7:
31659432-31659432

G

T

intronic

De novo

-

Turner2016 G

CCDC129

AU2569301

chr7:
31586669-31586669

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC129

2-1722-003

chr7:
31662627-31662627

A

T

intronic

De novo

-

Yuen2017 G

CCDC129

AU1668302

chr7:
31707737-31707737

A

G

intergenic

De novo

-

Yuen2017 G

CCDC129

SP0123572

chr7:
31682871-31682871

C

A

exonic

De novo

synonymous SNV

NM_194300
NM_001257968
NM_001257967

c.C1887A
c.C1965A
c.C1917A

p.T629T
p.T655T
p.T639T

-

4.946E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

CCDC129

2-1261-004

chr7:
31572467-31572474

AATTTCAC

A

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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