Variant Results

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or

Results for "KCNQ2"

Variant Events: 13

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

KCNQ2

1-0125-003

chr20:
62042369-62042369

C

A

intronic

De novo

2.507

-

Yuen2017 G

KCNQ2

14160.p1

chr20:
62038111-62038111

C

T

exonic

De novo

synonymous SNV

NM_004518
NM_172106
NM_172108
NM_172107

c.G2421A
c.G2451A
c.G2412A
c.G2505A

p.A807A
p.A817A
p.A804A
p.A835A

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

KCNQ2

1-0627-003

chr20:
62065062-62065072

AAATCAATCAA

AAATCAA

UTR3

De novo

-

-

Yuen2017 G

KCNQ2

5-0146-003

chr20:
62087891-62087891

C

T

intronic

De novo

-

-

Yuen2017 G

KCNQ2

2-0272-003

chr20:
62038128-62038128

C

CT

exonic

De novo

frameshift insertion

NM_004518
NM_172106
NM_172108
NM_172107

c.2403dupA
c.2433dupA
c.2394dupA
c.2487dupA

p.V802fs
p.V812fs
p.V799fs
p.V830fs

-

-

Yuen2017 G

KCNQ2

1-0380-003

chr20:
62108992-62108995

TGGA

T

intergenic

De novo

-

-

Yuen2017 G

KCNQ2

AU3911301

chr20:
62089020-62089020

A

C

intronic

De novo

-

-

Yuen2017 G

KCNQ2

SSC10463

chr20:
62038111-62038111

C

T

exonic

De novo

synonymous SNV

NM_004518
NM_172106
NM_172108
NM_172107

c.G2421A
c.G2451A
c.G2412A
c.G2505A

p.A807A
p.A817A
p.A804A
p.A835A

-

Lim2017 E

KCNQ2

Bruno2021:IX

chr20:
62076074-62076074

G

A

exonic

De novo

-

-

Bruno2021 E

KCNQ2

11075.p1

chr20:
62070073-62070099

CCTGCAATTCATCAGGGTCAGGTCACA

C

splicing

De novo

splicing

-

-

Dong2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

KCNQ2

1-0329-004

chr20:
62094819-62094819

C

T

intronic

De novo

-

-

Yuen2017 G

KCNQ2

2-1269-003

chr20:
62055529-62055529

C

T

splicing

Inherited

splicing

15.27

-

Jiang2013 G

KCNQ2

Mahjani2021:42

chr20:
62076601-62076601

G

C

exonic

nonsynonymous SNV

NM_004518
NM_172106
NM_172107
NM_172108
NM_172109

c.C504G
c.C504G
c.C504G
c.C504G
c.C504G

p.F168L
p.F168L
p.F168L
p.F168L
p.F168L

11.79

-

Mahjani2021 E

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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