Variant Results

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Results for "CCDC66"

Variant Events: 18

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

CCDC66

iHART1973

chr3:
56653386-56653390

TGAGA

T

exonic

Paternal

frameshift deletion

NM_001012506
NM_001141947

c.2365_2368del
c.2467_2470del

p.E789fs
p.E823fs

-

Ruzzo2019 G

CCDC66

iHART1883

chr3:
56650080-56650081

AG

A

exonic

Maternal

frameshift deletion

NM_001012506
NM_001141947

c.1741delG
c.1843delG

p.D581fs
p.D615fs

-

Ruzzo2019 G

CCDC66

iHART2305

chr3:
56653421-56653423

CAG

C

exonic

Maternal

frameshift deletion

NM_001012506
NM_001141947

c.2400_2401del
c.2502_2503del

p.T800fs
p.T834fs

-

Ruzzo2019 G

CCDC66

5-0083-003

chr3:
56599000-56599000

C

G

intronic

De novo

-

-

Yuen2017 G

CCDC66

AU2156303

chr3:
56625183-56625183

A

T

intronic

De novo

-

-

Yuen2017 G

CCDC66

iHART2631

chr3:
56591282-56591282

G

GTAAGCAGGGT

splicing

Paternal

splicing

-

Ruzzo2019 G

CCDC66

2-0122-004

chr3:
56653575-56653575

T

TCTAA

intronic

De novo

-

Yuen2017 G

CCDC66

Li2017:23136

chr3:
56649169-56649174

TCAAGA

T

exonic

Unknown

frameshift deletion

NM_001012506
NM_001141947

c.1479_1483del
c.1581_1585del

p.L493fs
p.L527fs

-

Li2017 T

CCDC66

1-0404-003

chr3:
56595978-56595978

C

T

intronic

De novo

-

-

Yuen2017 G

CCDC66

AU007503

chr3:
56601358-56601358

C

G

intronic

De novo

-

-

Yuen2017 G

CCDC66

AU3861301

chr3:
56599046-56599046

G

A

intronic

De novo

-

-

Yuen2017 G

CCDC66

A2

chr3:
56653453-56653453

C

CGTAA

exonic

De novo

frameshift insertion

NM_001012506
NM_001141947

c.2431_2432insGTAA
c.2533_2534insGTAA

p.H811fs
p.H845fs

-

-

Wu2018 G

CCDC66

CA138A

chr3:
56651551-56651551

A

C

exonic

De novo

nonsynonymous SNV

NM_001012506
NM_001141947

c.A2153C
c.A2255C

p.Q718P
p.Q752P

9.022

-

Fu2022 E

CCDC66

1-0321-004

chr3:
56604402-56604402

A

G

intronic

De novo

-

-

Yuen2017 G

CCDC66

13060.p1

chr3:
56627767-56627771

AAAGT

A

exonic

De novo

frameshift deletion

NM_001012506
NM_001141947

c.1216_1217del
c.1318_1319del

p.N406fs
p.N440fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

CCDC66

Li2017:17602

chr3:
56655621-56655623

AAG

A

exonic

Unknown

frameshift deletion

NM_001012506
NM_001141947

c.2721_2722del
c.2823_2824del

p.E907fs
p.E941fs

-

-

Li2017 T

CCDC66

2-1281-003

chr3:
56595199-56595199

T

C

intronic

De novo

-

-

Yuen2017 G

CCDC66

1-0214-003

chr3:
56613983-56613983

C

G

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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