Variant Results

or

Results for "FERD3L"

Variant Events: 34

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

FERD3L

1-0976-003

chr7:
19209660-19209660

G

A

intergenic

De novo

-

Yuen2017 G

FERD3L

1-0591-003

chr7:
19195874-19195889

TTCTCTCTCTCTCTCT

TTCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

FERD3L

2-0028-003

chr7:
19389221-19389221

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FERD3L

2-0149-005

chr7:
19185161-19185161

A

G

upstream

De novo

-

Trost2022 G

FERD3L

2-1089-004

chr7:
19573760-19573760

A

G

intergenic

De novo

-

Yuen2017 G

FERD3L

2-1220-003

chr7:
19733711-19733711

G

A

intergenic

De novo

-

Yuen2016 G

FERD3L

1-0731-003

chr7:
19185092-19185092

G

A

upstream

De novo

-

Trost2022 G

FERD3L

AU4410302

chr7:
19479599-19479599

T

C

intergenic

De novo

-

Yuen2017 G

FERD3L

mAGRE5534

chr7:
19184930-19184930

T

TG

exonic

Paternal

frameshift insertion

NM_152898

c.55_56insC

p.D19fs

-

Cirnigliaro2023 G

FERD3L

AU2787301

chr7:
19641011-19641011

T

C

intergenic

De novo

-

Yuen2017 G

FERD3L

2-1305-003

chr7:
19656645-19656645

C

T

intergenic

De novo

-

Yuen2017 G

FERD3L

7-0253-004

chr7:
19727162-19727162

G

A

intergenic

De novo

-

Yuen2017 G

FERD3L

AU4183301

chr7:
19433023-19433023

A

G

intergenic

De novo

-

Yuen2017 G

FERD3L

1-0405-003

chr7:
19626934-19626934

T

C

intergenic

De novo

-

Yuen2017 G

FERD3L

1-0139-005

chr7:
19277571-19277571

T

A

intergenic

De novo

-

Yuen2017 G

FERD3L

7-0077-003

chr7:
19387470-19387470

G

A

intergenic

De novo

-

Yuen2017 G

FERD3L

13023.p1

chr7:
19324646-19324646

T

G

intergenic

De novo

-

Turner2016 G

FERD3L

7-0175-003

chr7:
19553237-19553237

A

G

intergenic

De novo

-

Yuen2017 G

FERD3L

AU012803

chr7:
19630770-19630770

G

C

intergenic

De novo

-

Yuen2017 G

FERD3L

1-0804-003

chr7:
19529923-19529923

C

T

intergenic

De novo

-

Yuen2017 G

FERD3L

AU4013303

chr7:
19421679-19421679

A

G

intergenic

De novo

-

Yuen2017 G

FERD3L

2-1220-003

chr7:
19733122-19733122

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FERD3L

AU3713301

chr7:
19184001-19184001

A

T

downstream

De novo

-

Trost2022 G
Yuen2017 G

FERD3L

13808.p1

chr7:
19344909-19344909

C

CG

intergenic

De novo

-

Werling2018 G

FERD3L

AU054303

chr7:
19534477-19534477

C

G

intergenic

De novo

-

Yuen2017 G

FERD3L

AU3912301

chr7:
19623340-19623340

A

T

intergenic

De novo

-

Yuen2017 G

FERD3L

2-0208-004

chr7:
19445104-19445104

A

T

intergenic

De novo

-

Yuen2017 G

FERD3L

AU3912301

chr7:
19623325-19623325

A

G

intergenic

De novo

-

Yuen2017 G

FERD3L

AU3846303

chr7:
19465916-19465916

T

C

intergenic

De novo

-

Yuen2017 G

FERD3L

2-1255-003

chr7:
19232243-19232243

G

A

intergenic

De novo

-

Yuen2017 G

FERD3L

2-0149-003

chr7:
19571978-19571978

C

G

intergenic

De novo

-

Yuen2017 G

FERD3L

1-0394-003

chr7:
19231963-19231963

C

A

intergenic

De novo

-

Yuen2017 G

FERD3L

2-1402-003

chr7:
19474329-19474329

C

T

intergenic

De novo

-

Yuen2017 G

FERD3L

A10

chr7:
19393257-19393257

G

A

intergenic

De novo

-

Wu2018 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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