Variant Results

or

or

Results for "FAM3C"

Variant Events: 30

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

FAM3C

7-0255-003

chr7:
121110035-121110035

A

C

intergenic

De novo

-

-

Yuen2017 G

FAM3C

1-0388-003

chr7:
121173311-121173312

AC

A

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU4263304

chr7:
121165646-121165646

T

C

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU2777302

chr7:
121172355-121172355

A

G

intergenic

De novo

-

-

Yuen2017 G

FAM3C

1-0665-003

chr7:
121084047-121084047

C

T

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU1308303

chr7:
121390872-121390872

C

A

intergenic

De novo

-

-

Yuen2017 G

FAM3C

1-0377-003

chr7:
121162615-121162615

A

AGTC

intergenic

De novo

-

-

Yuen2017 G

FAM3C

1-0044-003

chr7:
121399454-121399454

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM3C

2-0043-003

chr7:
121116635-121116635

A

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

FAM3C

AU3124302

chr7:
121269223-121269223

T

C

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU058105

chr7:
121059460-121059461

CT

C

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU062204

chr7:
121393524-121393524

C

A

intergenic

De novo

-

-

Yuen2017 G

FAM3C

1-0381-003

chr7:
121163746-121163769

CTTATTTATTTATTTATTTATTTA

CTTATTTATTTATTTATTTA

intergenic

De novo

-

-

Yuen2017 G

FAM3C

5-0004-003

chr7:
121434348-121434348

C

T

intergenic

De novo

-

-

Yuen2017 G

FAM3C

10C108727

chr7:
121019114-121019114

C

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

FAM3C

2-1155-003

chr7:
121447375-121447375

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

FAM3C

1-0569-003

chr7:
121484823-121484823

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU2793301

chr7:
121252841-121252841

G

A

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU1940304

chr7:
121397930-121397938

ATAATTAAT

ATAAT

intergenic

De novo

-

-

Yuen2017 G

FAM3C

2-1406-003

chr7:
121014500-121014500

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FAM3C

14590.p1

chr7:
121189817-121189817

G

A

intergenic

De novo

-

-

Turner2016 G

FAM3C

1-0354-003

chr7:
121110921-121110921

A

G

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU009904

chr7:
121340598-121340598

A

C

intergenic

De novo

-

-

Yuen2017 G

FAM3C

1-0213-004

chr7:
121291449-121291449

C

G

intergenic

De novo

-

-

Yuen2017 G

FAM3C

2-1366-003

chr7:
121065843-121065843

A

G

intergenic

De novo

-

-

Yuen2017 G

FAM3C

AU059903

chr7:
121060819-121060837

AAAATAAATAAATAAATAA

AAAATAAATAAATAA

intergenic

De novo

-

-

Yuen2017 G

FAM3C

1-0233-004

chr7:
121019114-121019114

C

A

intronic

De novo

-

Yuen2017 G

FAM3C

AU4069302

chr7:
121086665-121086665

T

A

intergenic

De novo

-

-

Yuen2017 G

FAM3C

7-0249-004

chr7:
121002554-121002555

TA

T

intronic

De novo

-

-

Trost2022 G

FAM3C

5-0017-003

chr7:
121123588-121123588

T

C

intergenic

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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