Variant Results

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Results for "CFAP46"

Variant Events: 24

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

CFAP46

11480.p1

chr10:
134745272-134745272

C

CCCACAT

intronic

De novo

-

-

Krumm2015 E

CFAP46

AU2140305

chr10:
134677025-134677031

CCAATGC

CC

intronic

De novo

-

-

Yuen2017 G

CFAP46

iHART3297

chr10:
134681013-134681013

T

G

splicing

Maternal

splicing

8.918

-

Ruzzo2019 G

CFAP46

AU026604

chr10:
134689069-134689069

G

A

intronic

De novo

-

-

Yuen2017 G

CFAP46

iHART2962

chr10:
134673921-134673922

CT

C

exonic

Maternal

frameshift deletion

NM_001200049

c.5197delA

p.R1733fs

-

-

Ruzzo2019 G

CFAP46

iHART2630

chr10:
134713076-134713076

G

A

exonic

Paternal

stopgain

NM_001200049

c.C3019T

p.R1007X

38.0

Ruzzo2019 G

CFAP46

12579.p1

chr10:
134743800-134743800

A

G

intronic

De novo

-

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

CFAP46

iHART3295

chr10:
134681013-134681013

T

G

splicing

Maternal

splicing

8.918

-

Ruzzo2019 G

CFAP46

1-0507-003

chr10:
134692229-134692229

G

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CFAP46

1-0507-003

chr10:
134638199-134638199

T

C

intronic

De novo

-

-

Yuen2017 G

CFAP46

AU3765303

chr10:
134635617-134635625

CTGTGTGTG

CTGTGTG

intronic

De novo

-

-

Yuen2017 G

CFAP46

DEASD_1079_001

chr10:
134626272-134626272

G

A

intronic

De novo

-

-

Satterstrom2020 E

CFAP46

1-0394-003

chr10:
134636528-134636543

TGCTGTGTGTGCGCTG

TGCTG

intronic

De novo

-

-

Yuen2017 G

CFAP46

1-0554-003

chr10:
134706460-134706460

G

C

intronic

De novo

-

-

Yuen2017 G

CFAP46

AU3765302

chr10:
134635617-134635625

CTGTGTGTG

CTGTGTG

intronic

De novo

-

-

Yuen2017 G

CFAP46

05C43787

chr10:
134740039-134740039

T

C

intronic

De novo

-

-

Satterstrom2020 E

CFAP46

2-0018-004

chr10:
134701885-134701886

CT

C

intronic

De novo

-

-

Yuen2017 G

CFAP46

AU076704

chr10:
134736085-134736085

G

A

exonic

De novo

nonsynonymous SNV

NM_001200049

c.C1384T

p.R462W

11.0

-

Yuen2017 G

CFAP46

AU074503

chr10:
134609638-134609638

T

G

intergenic

De novo

-

-

Yuen2017 G

CFAP46

AU074503

chr10:
134609650-134609650

T

C

intergenic

De novo

-

-

Yuen2017 G

CFAP46

1-0518-003

chr10:
134696773-134696773

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CFAP46

11482.p1

chr10:
134752145-134752145

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001200049

c.G484A

p.V162M

12.59

Ji2016 E
Krumm2015 E
Krupp2017 E

CFAP46

1-0863-003

chr10:
134696937-134696937

A

T

intronic

De novo

-

-

Yuen2017 G

CFAP46

1-0400-003

chr10:
134635877-134635877

C

A

intronic

De novo

-

-

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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