Variant Results

or

Results for "CCDC60"

Variant Events: 35

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

CCDC60

1-0273-004

chr12:
119943659-119943659

C

CA

intronic

De novo

-

Yuen2017 G

CCDC60

AU2250301

chr12:
119823333-119823333

G

A

intronic

De novo

-

Trost2022 G

CCDC60

7-0322-003

chr12:
119823450-119823450

A

G

intronic

De novo

-

Trost2022 G

CCDC60

4-0077-003

chr12:
119807542-119807545

AAGC

A

intronic

De novo

-

Trost2022 G

CCDC60

SJD_49.4

chr12:
119821132-119821132

G

A

intronic

De novo

-

Trost2022 G

CCDC60

2-1481-003

chr12:
119772354-119772354

C

G

upstream

De novo

-

Trost2022 G

CCDC60

4-0062-003

chr12:
119807542-119807545

AAGC

A

intronic

De novo

-

Trost2022 G

CCDC60

AU4013301

chr12:
119937908-119937908

A

G

exonic

De novo

nonsynonymous SNV

NM_178499

c.A583G

p.I195V

0.318

8.245E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

CCDC60

1-0278-003

chr12:
119829969-119829969

A

G

intronic

De novo

-

Yuen2016 G

CCDC60

2-1350-003

chr12:
120000464-120000464

G

A

intergenic

De novo

-

Yuen2017 G

CCDC60

7-0485-003

chr12:
119912538-119912538

G

A

intronic

De novo

-

Trost2022 G

CCDC60

MSSNG00202-003

chr12:
119967794-119967794

T

G

intronic

De novo

-

Trost2022 G

CCDC60

MT_56.3

chr12:
119882360-119882360

C

CT

intronic

De novo

-

Trost2022 G

CCDC60

2-1787-003

chr12:
119883080-119883080

A

G

intronic

De novo

-

Trost2022 G

CCDC60

1-0278-003A

chr12:
119829969-119829969

A

G

intronic

De novo

-

Trost2022 G

CCDC60

MT_35.3

chr12:
119873525-119873525

G

A

intronic

De novo

-

Trost2022 G

CCDC60

PN400564

chr12:
119942952-119942952

C

T

exonic

De novo

nonsynonymous SNV

NM_178499

c.C727T

p.R243W

13.18

8.285E-6

Leblond2019 E

CCDC60

AU2035302

chr12:
119983652-119983652

C

G

intergenic

De novo

-

Yuen2017 G

CCDC60

mAGRE3017

chr12:
119966552-119966553

GT

G

splicing

Paternal

splicing

-

Cirnigliaro2023 G

CCDC60

mAGRE5956

chr12:
119942960-119942961

TG

T

exonic

Paternal

frameshift deletion

NM_178499

c.736delG

p.G246fs

-

Cirnigliaro2023 G

CCDC60

mAGRE5955

chr12:
119942960-119942961

TG

T

exonic

Paternal

frameshift deletion

NM_178499

c.736delG

p.G246fs

-

Cirnigliaro2023 G

CCDC60

mAGRE4550

chr12:
119937941-119937941

C

T

exonic

Maternal

stopgain

NM_178499

c.C616T

p.Q206X

41.0

-

Cirnigliaro2023 G

CCDC60

5-0003-003

chr12:
119932636-119932636

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC60

2-1350-004

chr12:
120000464-120000464

G

A

intergenic

De novo

-

Yuen2017 G

CCDC60

2-1487-003

chr12:
119818912-119818912

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC60

mAGRE3018

chr12:
119966552-119966553

GT

G

splicing

Paternal

splicing

-

Cirnigliaro2023 G

CCDC60

1-0835-003

chr12:
119896258-119896258

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC60

2-1454-003

chr12:
119940535-119940535

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC60

SP0065617

chr12:
119909984-119909984

T

G

intronic

De novo

-

Fu2022 E

CCDC60

AU066403

chr12:
119852988-119852988

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC60

AU2035301

chr12:
119983652-119983652

C

G

intergenic

De novo

-

Yuen2017 G

CCDC60

iHART3018

chr12:
119966552-119966553

GT

G

splicing

Paternal

splicing

-

Ruzzo2019 G

CCDC60

SP0073901

chr12:
119909940-119909940

A

C

exonic

De novo

synonymous SNV

NM_178499

c.A312C

p.S104S

-

Fu2022 E

CCDC60

iHART3017

chr12:
119966552-119966553

GT

G

splicing

Paternal

splicing

-

Ruzzo2019 G

CCDC60

SP0060820

chr12:
119909940-119909940

A

C

exonic

De novo

synonymous SNV

NM_178499

c.A312C

p.S104S

-

Fu2022 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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