Variant Results

or

Results for "CCDC14"

Variant Events: 11

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

CCDC14

AU057405

chr3:
123649780-123649780

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC14

MSSNG00414-003

chr3:
123659069-123659069

C

T

intronic

De novo

-

Trost2022 G

CCDC14

MSSNG00172-003

chr3:
123677201-123677201

C

G

intronic

De novo

-

Trost2022 G

CCDC14

1-0339-004

chr3:
123648482-123648482

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CCDC14

AU003405

chr3:
123685882-123685882

G

C

intergenic

De novo

-

Yuen2017 G

CCDC14

SP0055931

chr3:
123674973-123674973

T

TA

intronic

De novo

-

Fu2022 E

CCDC14

11094_p1

chr3:
123663756-123663756

A

G

exonic

De novo

nonsynonymous SNV

NM_001308317
NM_022757

c.T827C
c.T1304C

p.I276T
p.I435T

2.917

-

Fu2022 E

CCDC14

SP0199406

chr3:
123649919-123649920

CA

C

intronic

De novo

-

Trost2022 G

CCDC14

MSSNG00027-003

chr3:
123650935-123650935

C

G

intronic

De novo

-

Trost2022 G

CCDC14

11094.p1

chr3:
123663756-123663756

A

G

exonic

De novo

nonsynonymous SNV

NM_001308317
NM_022757

c.T827C
c.T1304C

p.I276T
p.I435T

2.917

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CCDC14

mAGRE5466

chr3:
123663700-123663700

G

A

exonic

Paternal

stopgain

NM_001308317
NM_022757

c.C883T
c.C1360T

p.R295X
p.R454X

37.0

8.511E-6

Cirnigliaro2023 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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