Variant Results

or

Results for "KCNH7"

Variant Events: 64

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

KCNH7

1-0282-003

chr2:
164239705-164239705

C

T

intergenic

De novo

-

Yuen2017 G

KCNH7

2-0022-003

chr2:
164002895-164002895

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

AU3506302

chr2:
164166081-164166081

C

T

intergenic

De novo

-

Yuen2017 G

KCNH7

AU076508

chr2:
163270822-163270822

G

A

intronic

De novo

-

Yuen2017 G

KCNH7

7-0059-003

chr2:
163512006-163512006

T

C

intronic

De novo

-

Yuen2017 G

KCNH7

A6

chr2:
163585968-163585968

A

G

intronic

De novo

-

Wu2018 G

KCNH7

2-0215-003

chr2:
163675667-163675667

A

G

intronic

De novo

-

Yuen2017 G

KCNH7

JASD_Fam0232

chr2:
163241305-163241305

A

C

exonic

De novo

nonsynonymous SNV

NM_033272

c.T2855G

p.I952R

4.259

-

Takata2018 E

KCNH7

1-0173-004

chr2:
163805000-163805000

G

C

intergenic

De novo

-

Yuen2017 G

KCNH7

2-1258-004

chr2:
163841772-163841772

A

C

intergenic

De novo

-

Yuen2017 G

KCNH7

1-0357-003

chr2:
163896819-163896819

A

G

intergenic

De novo

-

Yuen2017 G

KCNH7

AU3692302

chr2:
163290171-163290171

C

G

intronic

De novo

-

Yuen2017 G

KCNH7

1-0214-003

chr2:
163512415-163512415

T

C

intronic

De novo

-

Yuen2017 G

KCNH7

AU2123302

chr2:
163579827-163579827

C

T

intronic

De novo

-

Yuen2017 G

KCNH7

2-1736-003

chr2:
164238993-164238993

C

T

intergenic

De novo

-

Yuen2017 G

KCNH7

2-0022-005

chr2:
163481996-163481996

G

A

intronic

De novo

-

Yuen2017 G

KCNH7

AU1308303

chr2:
163448653-163448653

G

T

intronic

De novo

-

Yuen2017 G

KCNH7

1-0150-003

chr2:
163561261-163561261

A

C

intronic

De novo

-

Yuen2017 G

KCNH7

1-0436-003

chr2:
163475519-163475519

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNH7

2-1335-004

chr2:
164438992-164438992

A

G

intergenic

De novo

-

Yuen2017 G

KCNH7

1-0332-003

chr2:
163383003-163383003

G

A

intronic

De novo

-

Yuen2017 G

KCNH7

2-1246-003

chr2:
163350911-163350911

C

A

intronic

De novo

-

Yuen2017 G

KCNH7

7-0175-003

chr2:
164181457-164181457

C

A

intergenic

De novo

-

Yuen2017 G

KCNH7

AU1640302

chr2:
163765115-163765115

T

G

intergenic

De novo

-

Yuen2017 G

KCNH7

2-0319-004

chr2:
163855203-163855203

C

A

intergenic

De novo

-

Yuen2017 G

KCNH7

5-0003-003

chr2:
163524500-163524500

G

C

intronic

De novo

-

Yuen2017 G

KCNH7

2-1322-003

chr2:
163257530-163257530

C

T

intronic

De novo

-

Yuen2017 G

KCNH7

AU3124302

chr2:
163991337-163991337

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

AU4032306

chr2:
164250367-164250367

T

C

intergenic

De novo

-

Yuen2017 G

KCNH7

2-1644-003

chr2:
163818209-163818209

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

AU3889305

chr2:
163336223-163336223

C

T

intronic

De novo

-

Yuen2017 G

KCNH7

2-0122-003

chr2:
163929047-163929047

G

GTTGTT

intergenic

De novo

-

Yuen2017 G

KCNH7

14280.p1

chr2:
163900955-163900955

C

T

intergenic

De novo

-

Wilfert2021 G

KCNH7

2-1094-004

chr2:
163342786-163342786

C

A

intronic

De novo

-

Yuen2017 G

KCNH7

2-0028-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

KCNH7

2-1195-003

chr2:
163732069-163732069

T

C

intergenic

De novo

-

Yuen2016 G

KCNH7

2-0057-004

chr2:
163392423-163392423

G

A

intronic

De novo

-

Yuen2017 G

KCNH7

2-1186-003

chr2:
163559932-163559932

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNH7

7-0148-003

chr2:
164355816-164355816

A

T

intergenic

De novo

-

Yuen2017 G

KCNH7

2-1114-003

chr2:
164319589-164319589

T

C

intergenic

De novo

-

Yuen2017 G

KCNH7

7-0148-003

chr2:
164355823-164355823

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

AU2140305

chr2:
163746377-163746377

T

G

intergenic

De novo

-

Yuen2017 G

KCNH7

AU3051303

chr2:
164199509-164199509

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

AU076704

chr2:
164315766-164315766

T

A

intergenic

De novo

-

Yuen2017 G

KCNH7

2-1526-004

chr2:
163362218-163362218

C

T

intronic

De novo

-

Yuen2017 G

KCNH7

1-0324-003

chr2:
163883269-163883269

G

T

intergenic

De novo

-

Yuen2017 G

KCNH7

2-1280-003

chr2:
163933065-163933065

A

T

intergenic

De novo

-

Yuen2017 G

KCNH7

AU3859301

chr2:
163909010-163909010

C

T

intergenic

De novo

-

Yuen2017 G

KCNH7

AU3984301

chr2:
163862845-163862852

ATCTGTCT

ATCT

intergenic

De novo

-

Yuen2017 G

KCNH7

2-1176-003

chr2:
163245511-163245512

GA

G

intronic

De novo

-

Yuen2017 G

KCNH7

5-0017-004

chr2:
163911806-163911806

C

T

intergenic

De novo

-

Yuen2017 G

KCNH7

AU3809302

chr2:
164303163-164303163

A

G

intergenic

De novo

-

Yuen2017 G

KCNH7

AU4089302

chr2:
163985195-163985195

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

1-0435-003

chr2:
163609420-163609420

A

G

intronic

De novo

-

Yuen2017 G

KCNH7

AU3399303

chr2:
164267433-164267433

T

G

intergenic

De novo

-

Yuen2017 G

KCNH7

AU4013302

chr2:
163578058-163578058

T

A

intronic

De novo

-

Yuen2017 G

KCNH7

DEASD_0254_001

chr2:
163302876-163302876

G

C

exonic

De novo

nonsynonymous SNV

NM_173162
NM_033272

c.C1185G
c.C1206G

p.H395Q
p.H402Q

22.7

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

KCNH7

AU4013302

chr2:
164248279-164248279

T

C

intergenic

De novo

-

Yuen2017 G

KCNH7

1-0150-004

chr2:
163929047-163929047

G

GTTGTT

intergenic

De novo

-

Yuen2017 G

KCNH7

2-0007-003

chr2:
164198197-164198197

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

7-0044-003

chr2:
164273221-164273221

C

T

intergenic

De novo

-

Yuen2017 G

KCNH7

1-0914-003

chr2:
164314132-164314132

C

A

intergenic

De novo

-

Yuen2017 G

KCNH7

2-0007-003

chr2:
164189258-164189258

G

A

intergenic

De novo

-

Yuen2017 G

KCNH7

3-0447-000

chr2:
163488984-163488984

C

G

intronic

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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