Variant Results

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Results for "CCDC50"

Variant Events: 13

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

CCDC50

AU4315302

chr3:
191113564-191113564

A

G

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

CCDC50

AU3997301

chr3:
191084425-191084425

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CCDC50

Lee2020:76

chr3:
191074910-191074910

C

CAC

exonic

frameshift insertion

NM_174908
NM_178335

c.83_84insAC
c.83_84insAC

p.T28fs
p.T28fs

-

-

Lee2020 T

CCDC50

3-0063-000

chr3:
191108176-191108176

G

A

intronic

De novo

-

-

Trost2022 G

CCDC50

iHART2007

chr3:
191093222-191093222

C

T

exonic

Maternal

stopgain

NM_178335

c.C820T

p.R274X

37.0

-

Ruzzo2019 G

CCDC50

SP0025562

chr3:
191092773-191092773

C

G

intronic

De novo

-

-

Fu2022 E

CCDC50

5-5098-003

chr3:
191073888-191073888

G

A

intronic

De novo

-

-

Trost2022 G

CCDC50

3-0515-001

chr3:
191085648-191085648

C

T

intronic

De novo

-

-

Trost2022 G

CCDC50

MSSNG00437-004

chr3:
191049876-191049876

T

C

intronic

De novo

-

-

Trost2022 G

CCDC50

REACH000735

chr3:
191063421-191063421

G

A

intronic

De novo

-

-

Trost2022 G

CCDC50

mAGRE2007

chr3:
191093222-191093222

C

T

exonic

Maternal

stopgain

NM_178335

c.C820T

p.R274X

37.0

-

Cirnigliaro2023 G

CCDC50

SP0045624

chr3:
191098757-191098757

A

T

intronic

De novo

-

-

Fu2022 E

CCDC50

7-0224-003

chr3:
191048625-191048625

A

G

intronic

De novo

-

-

Trost2022 G
Trost2022 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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