Variant Results

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Results for "CFAP47"

Variant Events: 20

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

CFAP47

AU3703302

chrX:
35942139-35942147

CATATATAT

CATATAT

intronic

De novo

-

-

Yuen2017 G

CFAP47

AU3703302

chrX:
36096657-36096658

TG

T

intronic

De novo

-

-

Yuen2017 G

CFAP47

AU3846302

chrX:
35942364-35942387

GCATATGGACATGTATGTGTACAT

GCAT

intronic

De novo

-

-

Yuen2017 G

CFAP47

3-0447-000

chrX:
36020847-36020847

T

A

intronic

De novo

-

-

Yuen2017 G

CFAP47

AU2950302

chrX:
36359383-36359383

C

T

intronic

De novo

-

-

Yuen2017 G

CFAP47

3-0661-000

chrX:
36023125-36023135

GTTTTTTTTTT

GTTTTTTTTTTT

intronic

De novo

-

-

Yuen2017 G

CFAP47

AU076509

chrX:
36097118-36097118

G

T

intronic

De novo

-

-

Yuen2017 G

CFAP47

AU039903

chrX:
36007464-36007464

A

T

exonic

Unknown

nonsynonymous SNV

NM_001304548
NM_152632

c.A2742T
c.A2742T

p.E914D
p.E914D

10.25

Chahrour2012 E

CFAP47

Cukier2014:37117

chrX:
36091379-36091379

A

C

exonic

Unknown

nonsynonymous SNV

NM_001304548

c.A4589C

p.H1530P

10.85

Cukier2014 E

CFAP47

1-0393-003

chrX:
36083952-36083952

G

A

intronic

De novo

-

-

Yuen2017 G

CFAP47

1-0556-003

chrX:
36332849-36332864

TGAGAGAGAGAGAGAG

TGAGAGAGAGAGAG

intronic

De novo

-

-

Yuen2017 G

CFAP47

2-1505-004

chrX:
36078602-36078602

A

T

intronic

De novo

-

-

Yuen2017 G

CFAP47

1-0777-003

chrX:
35959319-35959319

A

G

intronic

De novo

-

-

Yuen2017 G

CFAP47

8222

chrX:
36116898-36116903

TTTTAA

T

intronic

De novo

-

-

Trost2022 G

CFAP47

AU3716301

chrX:
36266075-36266075

A

G

intronic

De novo

-

-

Yuen2017 G

CFAP47

1-0173-004

chrX:
36351908-36351908

T

C

intronic

De novo

-

-

Yuen2017 G

CFAP47

AU3964302

chrX:
35942127-35942127

A

T

intronic

De novo

-

-

Yuen2017 G

CFAP47

14020.p1

chrX:
36116898-36116903

TTTTAA

T

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

CFAP47

AU050910

chrX:
35942007-35942041

TATGTGTATATATGTACATGTGTATATATGTACAT

TATGTGTATATATGTACAT

intronic

De novo

-

-

Yuen2017 G

CFAP47

Al-Mubarak2017:ASD-16

chrX:
36013665-36013665

G

A

intronic

Unknown

-

-

Al-Mubarak2017 E

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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