Variant Results

or

or

Results for "KY"

Variant Events: 12

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

KY

2-1359-003

chr3:
134382359-134382359

G

A

intergenic

De novo

-

-

Yuen2017 G

KY

AU4215302

chr3:
134322881-134322881

C

T

exonic

De novo

nonsynonymous SNV

NM_178554

c.G1526A

p.R509Q

24.8

Yuen2017 G

KY

2-1359-004

chr3:
134382359-134382359

G

A

intergenic

De novo

-

-

Yuen2017 G

KY

SP0099600

chr3:
134369593-134369593

C

T

intronic

De novo

-

-

Fu2022 E

KY

2-0045-003

chr3:
134448845-134448845

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KY

5-0140-003

chr3:
134465106-134465106

T

C

intergenic

De novo

-

-

Yuen2017 G

KY

11572.p1

chr3:
134464550-134464550

A

G

intergenic

De novo

-

-

Turner2016 G

KY

11572.p1

chr3:
134464567-134464567

G

A

intergenic

De novo

-

-

Turner2016 G

KY

1-0496-003

chr3:
134506567-134506567

G

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KY

11089.p1

chr3:
134356589-134356589

C

T

intronic

De novo

-

-

Turner2016 G

KY

5-0026-003

chr3:
134476579-134476579

G

A

intergenic

De novo

-

-

Yuen2017 G

KY

AU3885304

chr3:
134326131-134326131

C

T

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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