Variant Results

or

Results for "C17orf112"

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

C17orf112

AU2975301

chr17:
51663441-51663441

C

T

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0209-003

chr17:
51894401-51894401

G

A

intergenic

De novo

-

Yuen2017 G

C17orf112

2-0129-005

chr17:
51173841-51173844

GGAA

G

intergenic

De novo

-

Yuen2017 G

C17orf112

AU038203

chr17:
51294930-51294930

A

G

intergenic

De novo

-

Yuen2017 G

C17orf112

AU4150301

chr17:
51407950-51407950

C

T

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0354-003

chr17:
51663563-51663563

A

G

intergenic

De novo

-

Yuen2017 G

C17orf112

2-1261-003

chr17:
51261518-51261518

T

TTAA

intergenic

De novo

-

Yuen2017 G

C17orf112

AU3721301

chr17:
51547087-51547087

C

T

intergenic

De novo

-

Yuen2017 G

C17orf112

5-0117-003

chr17:
51103865-51103865

G

A

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0627-005

chr17:
51777937-51777942

CTTTTT

CTTT

intergenic

De novo

-

Yuen2017 G

C17orf112

5-0042-003

chr17:
51142969-51142969

A

G

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0559-005

chr17:
51185546-51185546

G

A

intergenic

De novo

-

Yuen2017 G

C17orf112

AU034904

chr17:
51615644-51615644

C

A

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0590-003

chr17:
51641574-51641589

CAATAATAATAATAAT

CAATAATAATAAT

intergenic

De novo

-

Yuen2017 G

C17orf112

AU060004

chr17:
51497338-51497338

C

T

intergenic

De novo

-

Yuen2017 G

C17orf112

74-0352

chr17:
51724648-51724648

C

G

intergenic

De novo

-

Michaelson2012 G

C17orf112

1-0551-003

chr17:
51533532-51533547

TTCATAGTGGTTGTAC

T

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0551-003

chr17:
51397172-51397172

G

T

intergenic

De novo

-

Yuen2017 G

C17orf112

2-1278-003

chr17:
51148864-51148864

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

C17orf112

AU3905301

chr17:
51320543-51320556

TATAATAATAATAA

TATAATAATAA

intergenic

De novo

-

Yuen2017 G

C17orf112

2-1461-003

chr17:
51116886-51116886

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

C17orf112

2-1112-003

chr17:
51315972-51315972

A

G

intergenic

De novo

-

Yuen2016 G

C17orf112

1-0200-004

chr17:
51515833-51515833

C

T

intergenic

De novo

-

Yuen2017 G

C17orf112

2-1391-004

chr17:
51570765-51570770

GGAACT

G

intergenic

De novo

-

Yuen2017 G

C17orf112

2-1261-004

chr17:
51261518-51261518

T

TTAA

intergenic

De novo

-

Yuen2017 G

C17orf112

2-1335-004

chr17:
51311981-51311981

G

A

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0112-004

chr17:
51324285-51324285

G

T

intergenic

De novo

-

Yuen2017 G

C17orf112

2-1402-003

chr17:
51319553-51319553

G

A

intergenic

De novo

-

Yuen2017 G

C17orf112

AU2129301

chr17:
51497339-51497339

G

A

intergenic

De novo

-

Yuen2017 G

C17orf112

7-0044-003

chr17:
51144695-51144695

T

C

intergenic

De novo

-

Yuen2017 G

C17orf112

AU3720302

chr17:
51463659-51463659

T

C

intergenic

De novo

-

Yuen2017 G

C17orf112

1-0482-003

chr17:
51745827-51745827

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

C17orf112

2-0202-003

chr17:
51711551-51711551

G

A

intergenic

De novo

-

Yuen2017 G

C17orf112

AU3051302

chr17:
51269184-51269184

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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