Variant Results

or

or

Results for "FAM110B"

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

FAM110B

AU2433303

chr8:
59125641-59125641

A

G

intergenic

De novo

-

-

Yuen2017 G

FAM110B

AU3794301

chr8:
59132648-59132648

T

C

intergenic

De novo

-

-

Yuen2017 G

FAM110B

1-0433-004

chr8:
59032766-59032766

G

A

intronic

De novo

-

-

Yuen2017 G

FAM110B

AU1988302

chr8:
59077277-59077277

C

T

intergenic

De novo

-

-

Yuen2017 G

FAM110B

AU1725306

chr8:
59100339-59100339

A

G

intergenic

De novo

-

-

Yuen2017 G

FAM110B

AU4012302

chr8:
59103104-59103104

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM110B

7-0179-003

chr8:
59152775-59152783

GAAGTAAGT

GAAGT

intergenic

De novo

-

-

Yuen2017 G

FAM110B

AU058105

chr8:
59004556-59004556

C

T

intronic

De novo

-

-

Yuen2017 G

FAM110B

11946.p1

chr8:
58926192-58926193

TG

T

intronic

De novo

-

-

Werling2018 G

FAM110B

AU3874303

chr8:
58930706-58930706

A

G

intronic

De novo

-

-

Yuen2017 G

FAM110B

AU059903

chr8:
59118395-59118395

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM110B

2-1290-003

chr8:
59138307-59138307

C

T

intergenic

De novo

-

-

Yuen2017 G

FAM110B

7-0148-003

chr8:
59014153-59014153

G

A

intronic

De novo

-

-

Yuen2017 G

FAM110B

2-1629-003

chr8:
58922883-58922883

G

A

intronic

De novo

-

-

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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