Variant Results

or

Results for "KCNH8"

Variant Events: 100

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

KCNH8

mAGRE1896

chr3:
19575144-19575144

G

A

exonic

Maternal

stopgain

NM_144633

c.G2877A

p.W959X

39.0

8.239E-6

Cirnigliaro2023 G

KCNH8

7-0023-003

chr3:
19900738-19900738

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1567-004

chr3:
19035661-19035661

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

AU005214

chr3:
18872816-18872816

A

G

intergenic

De novo

-

Yuen2017 G

KCNH8

2-0158-003

chr3:
19274118-19274118

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

AU3636301

chr3:
19609227-19609227

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

AU2604301

chr3:
19297360-19297360

C

A

intronic

De novo

-

Trost2022 G

KCNH8

MSSNG00402-003

chr3:
19328659-19328659

A

T

intronic

De novo

-

Trost2022 G

KCNH8

1-0903-004

chr3:
19280891-19280891

C

T

intronic

De novo

-

Trost2022 G

KCNH8

3-0336-000

chr3:
19294349-19294349

T

C

intronic

De novo

-

Trost2022 G

KCNH8

2-1645-003

chr3:
19793697-19793697

G

T

intergenic

De novo

-

Yuen2017 G

KCNH8

7-0423-003

chr3:
19246271-19246271

T

C

intronic

De novo

-

Trost2022 G

KCNH8

1-0067-005

chr3:
18984706-18984708

TGA

T

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1581-003

chr3:
18740224-18740224

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

MSSNG00401-003

chr3:
19507382-19507382

T

G

intronic

De novo

-

Trost2022 G

KCNH8

5-5186-003

chr3:
19516696-19516699

AAAT

A

intronic

De novo

-

Trost2022 G

KCNH8

1-0565-004

chr3:
19440410-19440410

G

T

intronic

De novo

-

Trost2022 G

KCNH8

AU4067303

chr3:
18616053-18616053

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

MSSNG00084-003

chr3:
19458437-19458437

G

A

intronic

De novo

-

Trost2022 G

KCNH8

2-1451-004

chr3:
19398527-19398528

GT

CAG

intronic

De novo

-

Trost2022 G

KCNH8

3-0052-000

chr3:
19409818-19409818

A

G

intronic

De novo

-

Trost2022 G

KCNH8

MSSNG00184-003

chr3:
19369845-19369845

G

T

intronic

De novo

-

Trost2022 G

KCNH8

2-1721-003

chr3:
18749334-18749334

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

AU054304

chr3:
18669927-18669938

AAGAGAGAGAGA

AAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

KCNH8

7-0392-005

chr3:
19397063-19397063

A

G

intronic

De novo

-

Trost2022 G

KCNH8

MT_182.3

chr3:
19573911-19573911

T

C

intronic

De novo

-

Trost2022 G

KCNH8

SP0193913

chr3:
19575485-19575485

A

G

exonic

De novo

nonsynonymous SNV

NM_144633

c.A3218G

p.N1073S

11.57

-

Trost2022 G

KCNH8

AU4260303

chr3:
19416458-19416458

G

A

intronic

De novo

-

Yuen2017 G

KCNH8

2-1436-003

chr3:
19464887-19464887

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

AU079104

chr3:
19089565-19089570

CATTTA

CA

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1702-004

chr3:
19189629-19189629

C

T

upstream

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

AU031203

chr3:
19796918-19796918

C

A

intergenic

De novo

-

Yuen2017 G

KCNH8

A14

chr3:
19294145-19294145

G

T

intronic

De novo

-

Wu2018 G

KCNH8

7-0082-003

chr3:
18818581-18818581

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

AU3900302

chr3:
18798948-18798948

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

AU1795303

chr3:
19141358-19141358

C

A

intergenic

De novo

-

Yuen2017 G

KCNH8

AU3371302

chr3:
19856242-19856242

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

AU3900302

chr3:
19851102-19851102

C

G

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1735-003

chr3:
18616473-18616473

G

T

intergenic

De novo

-

Yuen2017 G

KCNH8

2-0242-003

chr3:
19030598-19030598

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1718-003

chr3:
19473826-19473826

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

7-0250-003

chr3:
19757256-19757256

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

7-0148-003

chr3:
19905498-19905498

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

AU4235303

chr3:
19882594-19882594

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0274-004

chr3:
19091028-19091028

A

G

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0107-003

chr3:
19523476-19523476

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KCNH8

2-0307-003

chr3:
18996289-18996289

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

2-0305-003

chr3:
19675764-19675764

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0161-003

chr3:
19268157-19268157

A

AAAGGCAGCTGTT

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

AU043804

chr3:
18871553-18871553

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1722-003

chr3:
18742182-18742182

C

A

intergenic

De novo

-

Yuen2017 G

KCNH8

AU2711303

chr3:
18757325-18757325

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0898-003

chr3:
19308936-19308936

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

1-0898-003

chr3:
19307506-19307506

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

2-1329-003

chr3:
19308930-19308930

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNH8

11522.p1

chr3:
19554533-19554533

G

A

exonic

De novo

synonymous SNV

NM_144633

c.G2151A

p.E717E

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

KCNH8

2-1173-003

chr3:
19056077-19056077

C

G

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1160-003

chr3:
19879373-19879373

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNH8

7-0191-003

chr3:
19070844-19070844

A

G

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0551-003

chr3:
19082852-19082852

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

A24

chr3:
19790094-19790094

C

T

intergenic

De novo

-

Wu2018 G

KCNH8

AU4233301

chr3:
19477564-19477564

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

AU1952305

chr3:
19567375-19567375

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

1-0936-003

chr3:
19798624-19798624

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1378-003

chr3:
19892807-19892807

G

C

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0150-003

chr3:
19913460-19913460

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

2-0297-003

chr3:
19407535-19407535

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

2-1696-003

chr3:
19477816-19477816

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

13171.p1

chr3:
19586160-19586160

T

A

intergenic

De novo

-

Turner2016 G

KCNH8

11572.p1

chr3:
19902068-19902068

A

G

intergenic

De novo

-

Turner2016 G

KCNH8

13711.p1

chr3:
19491606-19491606

C

T

exonic

De novo

nonsynonymous SNV

NM_144633

c.C1384T

p.H462Y

24.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

KCNH8

13649.p1

chr3:
18726654-18726654

C

T

intergenic

De novo

-

Turner2016 G

KCNH8

1-0555-003

chr3:
19230493-19230493

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

7-0251-003

chr3:
18662438-18662438

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

Lim2017:68607

chr3:
19554533-19554533

G

A

exonic

De novo

synonymous SNV

NM_144633

c.G2151A

p.E717E

-

Lim2017 E

KCNH8

Lim2017:70425

chr3:
19491606-19491606

C

T

exonic

De novo

nonsynonymous SNV

NM_144633

c.C1384T

p.H462Y

24.6

-

Lim2017 E

KCNH8

AU050910

chr3:
19771461-19771461

G

C

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0051-005

chr3:
19691690-19691690

T

G

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0225-003

chr3:
18586338-18586338

A

G

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0885-003

chr3:
19855649-19855649

C

T

intergenic

De novo

-

Yuen2017 G

KCNH8

AU3765302

chr3:
19748180-19748180

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1317-003

chr3:
19002096-19002096

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNH8

AU3885305

chr3:
18768992-18768992

A

G

intergenic

De novo

-

Yuen2017 G

KCNH8

2-1511-003

chr3:
19386887-19386887

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNH8

AU4306302

chr3:
18848036-18848036

T

G

intergenic

De novo

-

Yuen2017 G

KCNH8

2-0197-004

chr3:
18812522-18812522

G

GA

intergenic

De novo

-

Yuen2017 G

KCNH8

3-0661-000

chr3:
18871352-18871352

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

iHART1896

chr3:
19575144-19575144

G

A

exonic

Maternal

stopgain

NM_144633

c.G2877A

p.W959X

39.0

8.239E-6

Ruzzo2019 G

KCNH8

1-0019-004

chr3:
19035661-19035661

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0274-003

chr3:
19091028-19091028

A

G

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0196-005

chr3:
18935189-18935189

G

A

intergenic

De novo

-

Yuen2017 G

KCNH8

1-0375-003

chr3:
19328825-19328825

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KCNH8

1-0708-003

chr3:
19544655-19544655

A

G

intronic

De novo

-

Yuen2017 G

KCNH8

2-1117-003

chr3:
19811903-19811904

CT

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNH8

68607

chr3:
19554533-19554533

G

A

exonic

De novo

synonymous SNV

NM_144633

c.G2151A

p.E717E

-

Fu2022 E
Trost2022 G

KCNH8

5-0017-004

chr3:
19035452-19035452

T

TGGCCGGGCGCGG

intergenic

De novo

-

Yuen2017 G

KCNH8

2-0242-005

chr3:
18645406-18645406

A

C

intergenic

De novo

-

Yuen2017 G

KCNH8

70425

chr3:
19491606-19491606

C

T

exonic

De novo

nonsynonymous SNV

NM_144633

c.C1384T

p.H462Y

24.6

-

Fu2022 E
Trost2022 G

KCNH8

AU003406

chr3:
19145548-19145548

T

C

intergenic

De novo

-

Yuen2017 G

KCNH8

AU056005

chr3:
18727938-18727938

G

A

intergenic

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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