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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     1-0125-003chr20:
62042369-62042369
CAintronicDe novo2.507-Yuen2017 G
KCNQ2     14160.p1chr20:
62038111-62038111
CTexonicDe novosynonymous SNVNM_004518
NM_172106
NM_172108
NM_172107
c.G2421A
c.G2451A
c.G2412A
c.G2505A
p.A807A
p.A817A
p.A804A
p.A835A
-9.327E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
KCNQ2     1-0627-003chr20:
62065062-62065072
AAATCAATCAAAAATCAAUTR3De novo--Yuen2017 G
KCNQ2     5-0146-003chr20:
62087891-62087891
CTintronicDe novo--Yuen2017 G
KCNQ2     2-0272-003chr20:
62038128-62038128
CCTexonicDe novoframeshift insertionNM_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     1-0380-003chr20:
62108992-62108995
TGGATintergenicDe novo--Yuen2017 G
KCNQ2     AU3911301chr20:
62089020-62089020
ACintronicDe novo--Yuen2017 G
KCNQ2     SSC10463chr20:
62038111-62038111
CTexonicDe novosynonymous SNVNM_004518
NM_172106
NM_172108
NM_172107
c.G2421A
c.G2451A
c.G2412A
c.G2505A
p.A807A
p.A817A
p.A804A
p.A835A
-9.327E-6Lim2017 E
KCNQ2     Bruno2021:IXchr20:
62076074-62076074
GA exonicDe novo--Bruno2021 E
KCNQ2     11075.p1chr20:
62070073-62070099
CCTGCAATTCATCAGGGTCAGGTCACACsplicingDe novosplicing--Dong2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
KCNQ2     1-0329-004chr20:
62094819-62094819
CTintronicDe novo--Yuen2017 G
KCNQ2     2-1269-003chr20:
62055529-62055529
CTsplicingInheritedsplicing15.27-Jiang2013 G
KCNQ2     Mahjani2021:42chr20:
62076601-62076601
GCexonicnonsynonymous SNVNM_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

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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 notesView
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