Variant Results

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Results for "CFAP43"

Variant Events: 17

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

CFAP43

iHART3215

chr10:
105920794-105920794

C

T

splicing

De novo

splicing

19.39

-

Ruzzo2019 G

CFAP43

AU3900301

chr10:
105920794-105920794

C

T

splicing

De novo

splicing

19.39

-

Cirnigliaro2023 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

CFAP43

iHART3250

chr10:
105890007-105890007

G

A

exonic

Maternal

stopgain

NM_025145

c.C4888T

p.Q1630X

44.0

-

Ruzzo2019 G

CFAP43

mAGRE2215

chr10:
105945839-105945839

G

A

exonic

Paternal

stopgain

NM_025145

c.C1903T

p.Q635X

40.0

-

Cirnigliaro2023 G

CFAP43

iHART2215

chr10:
105945839-105945839

G

A

exonic

Paternal

stopgain

NM_025145

c.C1903T

p.Q635X

40.0

-

Ruzzo2019 G

CFAP43

mAGRE1973

chr10:
105928535-105928535

C

T

exonic

Maternal

stopgain

NM_025145

c.G2658A

p.W886X

38.0

Cirnigliaro2023 G

CFAP43

iHART1973

chr10:
105928535-105928535

C

T

exonic

Maternal

stopgain

NM_025145

c.G2658A

p.W886X

38.0

Ruzzo2019 G

CFAP43

AU4013302

chr10:
105890007-105890007

G

A

exonic

Maternal

stopgain

NM_025145

c.C4888T

p.Q1630X

44.0

-

Cirnigliaro2023 G

CFAP43

1-0215-006

chr10:
106009131-106009131

T

A

intergenic

De novo

-

-

Yuen2017 G

CFAP43

5-2015-003

chr10:
105922775-105922775

G

C

intronic

De novo

-

-

Trost2022 G

CFAP43

MSSNG00427-003

chr10:
105966526-105966526

A

G

intronic

De novo

-

-

Trost2022 G

CFAP43

Lim2017:10644

chr10:
105974134-105974134

T

G

exonic

De novo

nonsynonymous SNV

NM_025145

c.A467C

p.D156A

14.5

-

Lim2017 E

CFAP43

2-0323-003

chr10:
105944885-105944885

C

T

exonic

De novo

nonsynonymous SNV

NM_025145

c.G2030A

p.R677Q

10.44

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

CFAP43

SP0071568

chr10:
105990648-105990648

T

A

intronic

De novo

-

Trost2022 G

CFAP43

7-0444-003

chr10:
105992499-105992499

G

A

upstream

De novo

-

-

Trost2022 G

CFAP43

MT_69.3

chr10:
105942117-105942117

A

G

intronic

De novo

-

-

Trost2022 G
Zhou2022 GE

CFAP43

1-0041-003

chr10:
106006404-106006404

T

G

intergenic

De novo

-

-

Yuen2016 G
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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