Variant Results

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Results for "KLHL14"

Variant Events: 16

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

KLHL14

2-1315-003

chr18:
30332188-30332188

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KLHL14

11C120635

chr18:
30349680-30349680

T

C

exonic

De novo

nonsynonymous SNV

NM_020805

c.A875G

p.K292R

11.15

-

DeRubeis2014 E
Kosmicki2017 E

KLHL14

11C120635

chr18:
30349686-30349686

C

A

exonic

De novo

nonsynonymous SNV

NM_020805

c.G869T

p.C290F

18.22

-

DeRubeis2014 E
Kosmicki2017 E

KLHL14

1-0871-003

chr18:
30379966-30379966

G

A

intergenic

De novo

-

-

Yuen2017 G

KLHL14

1-0871-003

chr18:
30379964-30379964

G

A

intergenic

De novo

-

-

Yuen2017 G

KLHL14

13048.p1

chr18:
30260416-30260416

G

A

exonic

De novo

nonsynonymous SNV

NM_020805

c.C1385T

p.A462V

23.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G

KLHL14

AU002405

chr18:
30282303-30282304

TG

T

intronic

De novo

-

-

Yuen2017 G

KLHL14

63-343

chr18:
30414210-30414210

A

T

intergenic

De novo

-

-

Michaelson2012 G

KLHL14

AU4376301

chr18:
30256065-30256065

G

A

intronic

De novo

-

-

Yuen2017 G

KLHL14

2-1291-003

chr18:
30345054-30345054

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KLHL14

Lim2017:4909

chr18:
30260416-30260416

G

A

exonic

De novo

nonsynonymous SNV

NM_020805

c.C1385T

p.A462V

23.4

-

Lim2017 E

KLHL14

2-1430-003

chr18:
30377495-30377495

G

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KLHL14

AU4376301

chr18:
30275144-30275144

G

C

intronic

De novo

-

-

Yuen2017 G

KLHL14

2-1430-003

chr18:
30491024-30491024

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KLHL14

AU4376301

chr18:
30289817-30289817

G

A

intronic

De novo

-

-

Yuen2017 G

KLHL14

AU058103

chr18:
30510378-30510378

T

C

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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