Variant Results

or

Results for "KCNV1"

Variant Events: 51

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

KCNV1

2-0036-003

chr8:
111173856-111173856

G

A

intergenic

De novo

-

Yuen2016 G

KCNV1

2-1169-003

chr8:
111700561-111700561

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

5-0109-003

chr8:
111433317-111433317

C

G

intergenic

De novo

-

Yuen2017 G

KCNV1

AU3911301

chr8:
111228617-111228617

C

A

intergenic

De novo

-

Yuen2017 G

KCNV1

5-0077-004

chr8:
111553451-111553451

C

CATATAAGG

intergenic

De novo

-

Yuen2017 G

KCNV1

SMHC01288s000

chr8:
110980379-110980379

G

A

exonic

De novo

stopgain

NM_014379

c.C1441T

p.R481X

40.0

-

Yuan2023 E

KCNV1

1-0567-004

chr8:
111299416-111299416

C

T

intergenic

De novo

-

Yuen2017 G

KCNV1

SP0091972

chr8:
110980720-110980720

G

A

exonic

De novo

nonsynonymous SNV

NM_014379

c.C1100T

p.A367V

13.97

-

Fu2022 E

KCNV1

AU003403

chr8:
111182079-111182079

A

G

intergenic

De novo

-

Yuen2017 G

KCNV1

2-0219-004

chr8:
111558482-111558482

C

T

intergenic

De novo

-

Yuen2017 G

KCNV1

AU0780301

chr8:
111152739-111152739

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0564-003

chr8:
111818385-111818401

TTTATTATTATTATTAT

TTTATTATTATTAT

intergenic

De novo

-

Yuen2017 G

KCNV1

2-0043-003

chr8:
111664436-111664436

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNV1

2-1277-003

chr8:
111740264-111740264

A

G

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0435-003

chr8:
111682099-111682099

A

C

intergenic

De novo

-

Yuen2017 G

KCNV1

AU4024303

chr8:
111029344-111029345

TG

T

intergenic

De novo

-

Yuen2017 G

KCNV1

7-0135-003

chr8:
111334479-111334479

C

T

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1409-003

chr8:
111379180-111379180

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNV1

2-1322-004

chr8:
111057341-111057341

T

TG

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1237-003

chr8:
111835876-111835876

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

AU4452302

chr8:
111908602-111908602

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

14304.p1

chr8:
111701704-111701704

C

G

intergenic

De novo

-

Werling2018 G

KCNV1

AU4429301

chr8:
111681908-111681908

G

C

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0323-004

chr8:
111914402-111914402

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1736-003

chr8:
111826072-111826072

A

G

intergenic

De novo

-

Yuen2017 G

KCNV1

AU012804

chr8:
111273602-111273602

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1509-003

chr8:
111744943-111744943

C

G

intergenic

De novo

-

Yuen2017 G

KCNV1

2-0016-003

chr8:
111173856-111173856

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0976-003

chr8:
111118658-111118658

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1094-005

chr8:
111767675-111767675

C

T

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1370-003

chr8:
111150893-111150893

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNV1

2-0102-003

chr8:
111432236-111432236

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

Codina-Sola2015:ASD_14

chr8:
110980428-110980430

GAT

G

exonic

De novo

frameshift deletion

NM_014379

c.1390_1391del

p.I464fs

-

Codina-Sola2015 E

KCNV1

AU2793303

chr8:
111416054-111416054

A

T

intergenic

De novo

-

Yuen2017 G

KCNV1

AU2137304

chr8:
111331121-111331121

T

G

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0763-003

chr8:
111068375-111068375

C

T

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0556-003

chr8:
111135799-111135799

T

C

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1184-003

chr8:
111247351-111247354

ATTG

A

intergenic

De novo

-

Yuen2016 G

KCNV1

AU056003

chr8:
111416914-111416914

A

G

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0563-003

chr8:
111556770-111556770

C

T

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0874-003

chr8:
111355144-111355144

A

G

intergenic

De novo

-

Yuen2017 G

KCNV1

2-1386-003

chr8:
111584767-111584767

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNV1

AU046703

chr8:
111643258-111643258

C

T

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0186-004

chr8:
111395306-111395306

A

G

intergenic

De novo

-

Yuen2017 G

KCNV1

5-0129-003

chr8:
111329544-111329544

G

C

intergenic

De novo

-

Yuen2017 G

KCNV1

AU2089301

chr8:
111028166-111028166

C

G

intergenic

De novo

-

Yuen2017 G

KCNV1

AU000704

chr8:
111135306-111135306

A

T

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0806-003

chr8:
111503195-111503195

C

A

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0985-003

chr8:
111202695-111202695

G

A

intergenic

De novo

-

Yuen2017 G

KCNV1

AU1635302

chr8:
111106633-111106633

C

A

intergenic

De novo

-

Yuen2017 G

KCNV1

1-0041-003

chr8:
111773635-111773635

T

C

intergenic

De novo

-

Yuen2016 G
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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