Variant Results

or

Results for "KCNH5"

Variant Events: 60

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

KCNH5

SP0144275

chr14:
63417109-63417109

C

T

exonic

nonsynonymous SNV

NM_139318
NM_172375

c.G1111A
c.G1111A

p.G371R
p.G371R

34.0

-

Zhou2022 GE

KCNH5

A18

chr14:
63347228-63347228

T

C

intronic

De novo

-

Wu2018 G

KCNH5

AU2569301

chr14:
63589169-63589169

G

A

intergenic

De novo

-

Yuen2017 G

KCNH5

1-0354-003

chr14:
63221402-63221403

TC

CT

intronic

De novo

-

Trost2022 G

KCNH5

1-0354-003

chr14:
63221406-63221411

CATGCA

AACGGTG

intronic

De novo

-

Trost2022 G

KCNH5

AU2320301

chr14:
63206153-63206153

A

G

intronic

De novo

-

Trost2022 G

KCNH5

3-0650-000

chr14:
63209886-63209886

C

T

intronic

De novo

-

Trost2022 G

KCNH5

MSSNG00401-003

chr14:
63186577-63186577

G

A

intronic

De novo

-

Trost2022 G

KCNH5

MSSNG00032-003

chr14:
63201885-63201885

G

A

intronic

De novo

-

Trost2022 G

KCNH5

AU2320301

chr14:
63301280-63301280

A

G

intronic

De novo

-

Trost2022 G

KCNH5

MSSNG00411-003

chr14:
63320385-63320385

T

C

intronic

De novo

-

Trost2022 G

KCNH5

SJD_59.3

chr14:
63255487-63255487

A

C

intronic

De novo

-

Trost2022 G

KCNH5

3-0175-000

chr14:
63278270-63278270

T

C

intronic

De novo

-

Trost2022 G

KCNH5

MSSNG00029-003

chr14:
63244173-63244176

TACA

T

intronic

De novo

-

Trost2022 G

KCNH5

MSSNG00255-003

chr14:
63249390-63249390

G

A

intronic

De novo

-

Trost2022 G

KCNH5

2-1619-004

chr14:
63221415-63221415

T

C

intronic

De novo

-

Trost2022 G

KCNH5

MSSNG00363-004

chr14:
63234808-63234813

AATTAC

A

intronic

De novo

-

Trost2022 G

KCNH5

AU1933302

chr14:
63422101-63422101

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

1-0161-003

chr14:
63580594-63580594

T

TTTCATTATTAAAATTTAC

intergenic

De novo

-

Yuen2017 G

KCNH5

AU3648301

chr14:
63608700-63608700

G

T

intergenic

De novo

-

Yuen2017 G

KCNH5

2-1757-003

chr14:
63411843-63411843

G

A

intronic

De novo

-

Trost2022 G

KCNH5

MSSNG00013-004

chr14:
63495795-63495795

T

C

intronic

De novo

-

Trost2022 G

KCNH5

AU4264302

chr14:
63600313-63600313

A

G

intergenic

De novo

-

Yuen2017 G

KCNH5

1-1011-003

chr14:
63349496-63349496

G

T

intronic

De novo

-

Trost2022 G

KCNH5

1-0552-004

chr14:
63404533-63404533

G

C

intronic

De novo

-

Trost2022 G

KCNH5

1-0144-005

chr14:
63276736-63276738

GAA

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

1-0377-003

chr14:
63221333-63221333

A

G

intronic

De novo

-

Yuen2017 G

KCNH5

1-0389-004

chr14:
63629264-63629264

G

C

intergenic

De novo

-

Yuen2017 G

KCNH5

AU3764302

chr14:
63489232-63489232

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

7-0143-003

chr14:
63220286-63220286

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

2-0215-003

chr14:
63221333-63221333

A

G

intronic

De novo

-

Yuen2017 G

KCNH5

1-0261-004

chr14:
63214456-63214456

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

AU027506

chr14:
63663326-63663326

C

T

intergenic

De novo

-

Yuen2017 G

KCNH5

7-0191-003

chr14:
63221340-63221340

T

C

intronic

De novo

-

Yuen2017 G

KCNH5

2-1266-003

chr14:
63301375-63301375

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNH5

5-0050-004

chr14:
63221361-63221361

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

AU3905301

chr14:
63603310-63603310

A

T

intergenic

De novo

-

Yuen2017 G

KCNH5

IBS-ASD-29733-blood-wgs-ILLUMINA

chr14:
63447438-63447438

G

C

intronic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-4093-blood-wgs-ILLUMINA

chr14:
63435542-63435542

C

T

intronic

De novo

-

Kim2024 G

KCNH5

2-0242-004

chr14:
63221328-63221328

T

C

intronic

De novo

-

Yuen2017 G

KCNH5

IBS-ASD-9493-blood-wgs-ILLUMINA

chr14:
63400535-63400535

T

A

intronic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-29563-blood-wgs-ILLUMINA

chr14:
63345974-63345974

G

A

intronic

De novo

-

Kim2024 G

KCNH5

1-0497-003

chr14:
63371414-63371414

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

IBS-ASD-29563-blood-wgs-ILLUMINA

chr14:
63345956-63345956

C

A

intronic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-32733-blood-wgs-ILLUMINA

chr14:
63262769-63262769

C

T

intronic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-19753-blood-wgs-ILLUMINA

chr14:
63248291-63248291

G

A

intronic

De novo

-

Kim2024 G

KCNH5

2-1132-003

chr14:
63221328-63221328

T

C

intronic

De novo

-

Yuen2017 G

KCNH5

SP0067019

chr14:
63246370-63246370

C

A

intronic

De novo

-

Fu2022 E

KCNH5

IBS-ASD-19703-blood-wgs-ILLUMINA

chr14:
63577144-63577144

C

T

intergenic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-32383-blood-wgs-ILLUMINA

chr14:
63572629-63572629

A

C

intergenic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-13084-blood-wgs-ILLUMINA

chr14:
63563880-63563880

T

G

intergenic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-17483-blood-wgs-ILLUMINA

chr14:
63488582-63488582

G

GT

intronic

De novo

-

Kim2024 G

KCNH5

IBS-ASD-7553-blood-wgs-ILLUMINA

chr14:
63461918-63461918

C

T

intronic

De novo

-

Kim2024 G

KCNH5

2-0310-003

chr14:
63221340-63221340

T

C

intronic

De novo

-

Yuen2017 G

KCNH5

AU3713301

chr14:
63189743-63189743

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

AU3649304

chr14:
63641081-63641081

T

C

intergenic

De novo

-

Yuen2017 G

KCNH5

5-0041-003

chr14:
63321194-63321194

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

1-0384-003

chr14:
63187654-63187654

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH5

12175.p1

chr14:
63384006-63384006

G

C

intronic

De novo

-

Turner2016 G

KCNH5

13951.p1

chr14:
63382764-63382764

G

A

intronic

De novo

-

Turner2016 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
	More