Variant Results

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Results for "CCDC146"

Variant Events: 15

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

CCDC146

AU3889305

chr7:
76904037-76904037

C

T

intronic

De novo

-

-

Yuen2017 G

CCDC146

13324.p1

chr7:
76914079-76914079

A

T

intronic

De novo

-

-

Turner2016 G

CCDC146

mAGRE4627

chr7:
76912010-76912010

A

AT

exonic

Paternal

frameshift insertion

NM_020879

c.2057dupT

p.I686fs

-

Cirnigliaro2023 G

CCDC146

AU3913302

chr7:
76911911-76911911

A

AT

exonic

Maternal

frameshift insertion

NM_020879

c.1958dupT

p.I653fs

-

Cirnigliaro2023 G

CCDC146

iHART3236

chr7:
76911911-76911911

A

AT

exonic

Maternal

frameshift insertion

NM_020879

c.1958dupT

p.I653fs

-

Ruzzo2019 G

CCDC146

AU3725302

chr7:
76860288-76860288

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CCDC146

REACH000520

chr7:
76812213-76812213

T

C

intronic

De novo

-

-

Trost2022 G

CCDC146

3-0702-000

chr7:
76924800-76924800

A

G

downstream

De novo

-

-

Trost2022 G

CCDC146

3-0209-000

chr7:
76774287-76774287

C

T

intronic

De novo

-

-

Yuen2017 G

CCDC146

1-1121-003

chr7:
76900815-76900815

C

T

intronic

De novo

-

-

Trost2022 G

CCDC146

AU004403

chr7:
76916747-76916747

T

C

intronic

De novo

-

-

Trost2022 G

CCDC146

AU2250301

chr7:
76850122-76850122

A

G

intronic

De novo

-

-

Trost2022 G

CCDC146

2-1765-003

chr7:
76875606-76875606

A

G

intronic

De novo

-

-

Trost2022 G

CCDC146

1-0208-003

chr7:
76897100-76897100

G

A

intronic

De novo

-

-

Yuen2017 G

CCDC146

AU057404

chr7:
76907854-76907854

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

Source Variant Information

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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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