Variant Results

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Results for "CFAP69"

Variant Events: 14

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

CFAP69

SP0137578

chr7:
89939334-89939344

GAAAATTGTGT

G

intronic

De novo

-

-

Fu2022 E

CFAP69

2-1408-003

chr7:
89920481-89920481

A

AAGAATGGCT

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CFAP69

2-1238-003

chr7:
89931344-89931344

G

A

intronic

De novo

-

-

Trost2022 G

CFAP69

SP0098971

chr7:
89936401-89936401

G

T

exonic

De novo

nonsynonymous SNV

NM_001039706
NM_001160138

c.G2452T
c.G2398T

p.V818L
p.V800L

9.126

-

Trost2022 G

CFAP69

AU036203

chr7:
89916263-89916263

G

A

intronic

De novo

-

-

Yuen2017 G

CFAP69

7-0100-004

chr7:
89915577-89915577

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CFAP69

2-1066-003

chr7:
89889659-89889659

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CFAP69

72-0745

chr7:
89874755-89874755

C

G

exonic

Inherited

nonsynonymous SNV

NM_001039706
NM_001160138

c.C17G
c.C17G

p.A6G
p.A6G

18.46

-

Patowary2019 E

CFAP69

mAGRE4248

chr7:
89909193-89909193

G

A

exonic

Paternal

stopgain

NM_001039706
NM_001160138

c.G1358A
c.G1304A

p.W453X
p.W435X

36.0

-

Cirnigliaro2023 G

CFAP69

AU2463301

chr7:
89880391-89880391

C

T

intronic

De novo

-

-

Trost2022 G

CFAP69

mAGRE4994

chr7:
89874860-89874860

T

C

splicing

Paternal

splicing

7.822

Cirnigliaro2023 G

CFAP69

2-1246-003

chr7:
89943052-89943053

TG

T

intergenic

De novo

-

-

Yuen2017 G

CFAP69

7-0249-003

chr7:
89941224-89941224

C

G

downstream

De novo

-

-

Trost2022 G
Yuen2017 G

CFAP69

1-0186-004

chr7:
89874152-89874152

C

T

upstream

De novo

-

-

Trost2022 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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