Variant Results

or

Results for "KCNQ5"

Variant Events: 24

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

KCNQ5

SP0151016

chr6:
73834198-73834198

C

T

intronic

De novo

-

2.476E-5

Fu2022 E

KCNQ5

TRE_2504

chr6:
73834228-73834228

T

C

exonic

De novo

nonsynonymous SNV

NM_001160133
NM_001160134
NM_019842

c.T1240C
c.T1240C
c.T1240C

p.S414P
p.S414P
p.S414P

15.52

-

Fu2022 E

KCNQ5

SP0001817

chr6:
73843450-73843450

C

T

intronic

De novo

-

Fu2022 E

KCNQ5

Krgovic2022:037249

chr6:
73787603-73787603

G

C

exonic

Unknown

nonsynonymous SNV

NM_001160130
NM_001160132
NM_001160133
NM_001160134
NM_019842

c.G911C
c.G911C
c.G911C
c.G911C
c.G911C

p.W304S
p.W304S
p.W304S
p.W304S
p.W304S

26.4

-

Krgovic2022 E

KCNQ5

AU1698302

chr6:
73644226-73644226

T

C

intronic

De novo

-

Yuen2017 G

KCNQ5

2-1245-003

chr6:
73917252-73917252

C

T

intergenic

De novo

-

Yuen2017 G

KCNQ5

5-0055-003

chr6:
73670634-73670634

G

A

intronic

De novo

-

Yuen2017 G

KCNQ5

AU3779301

chr6:
73778624-73778624

A

T

intronic

De novo

-

Yuen2017 G

KCNQ5

1-0381-003

chr6:
73429367-73429370

GCAC

GC

intronic

De novo

-

Yuen2017 G

KCNQ5

5-0140-003

chr6:
73597903-73597903

C

T

intronic

De novo

-

Yuen2017 G

KCNQ5

2-0045-003

chr6:
73526611-73526611

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNQ5

7-0140-003

chr6:
73772558-73772558

C

T

intronic

De novo

-

Yuen2017 G

KCNQ5

iHART2949

chr6:
73905015-73905016

GC

G

exonic

Maternal

frameshift deletion

NM_001160134
NM_001160130
NM_001160132
NM_019842
NM_001160133

c.2348delC
c.2651delC
c.2708delC
c.2678delC
c.2735delC

p.A783fs
p.A884fs
p.A903fs
p.A893fs
p.A912fs

-

Ruzzo2019 G

KCNQ5

SP0034665

chr6:
73332263-73332263

T

C

exonic

De novo

nonsynonymous SNV

NM_001160130
NM_001160132
NM_001160133
NM_001160134
NM_019842

c.T346C
c.T346C
c.T346C
c.T346C
c.T346C

p.Y116H
p.Y116H
p.Y116H
p.Y116H
p.Y116H

15.62

-

Antaki2022 GE
Fu2022 E

KCNQ5

iHART2948

chr6:
73905015-73905016

GC

G

exonic

Maternal

frameshift deletion

NM_001160134
NM_001160130
NM_001160132
NM_019842
NM_001160133

c.2348delC
c.2651delC
c.2708delC
c.2678delC
c.2735delC

p.A783fs
p.A884fs
p.A903fs
p.A893fs
p.A912fs

-

Ruzzo2019 G

KCNQ5

5-0055-004

chr6:
73670634-73670634

G

A

intronic

De novo

-

Yuen2017 G

KCNQ5

AU3371301

chr6:
73558624-73558624

C

T

intronic

De novo

-

Yuen2017 G

KCNQ5

2-1422-003

chr6:
73696567-73696567

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNQ5

AU4079301

chr6:
73922471-73922471

C

T

intergenic

De novo

-

Yuen2017 G

KCNQ5

1-0701-003

chr6:
73630761-73630761

C

G

intronic

De novo

-

Yuen2017 G

KCNQ5

1-0336-004

chr6:
73391883-73391883

A

G

intronic

De novo

-

Yuen2017 G

KCNQ5

SJD_49

chr6:
73900363-73900363

G

A

exonic

Maternal

nonsynonymous SNV

NM_001160134
NM_001160130
NM_001160132
NM_019842
NM_001160133

c.G1315A
c.G1618A
c.G1675A
c.G1645A
c.G1702A

p.V439I
p.V540I
p.V559I
p.V549I
p.V568I

32.0

-

Toma2013 E

KCNQ5

2-1399-003

chr6:
73537258-73537258

A

G

intronic

De novo

-

Yuen2017 G

KCNQ5

2-0318-004

chr6:
73854733-73854733

G

A

intronic

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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