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Results for "KCNQ2"

Variant Events: 27

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     TRE_1687chr20:
62038120-62038120
GAexonicDe novosynonymous SNVNM_004518
NM_172106
NM_172108
NM_172107
c.C2412T
c.C2442T
c.C2403T
c.C2496T
p.P804P
p.P814P
p.P801P
p.P832P
--Fu2022 E
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
Zhou2022 GE
KCNQ2     1-0627-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
KCNQ2     5-0146-003chr20:
62087891-62087891
CTintronicDe novo--Trost2022 G
Yuen2017 G
KCNQ2     SP0041862chr20:
62044845-62044845
CTexonicDe novononsynonymous SNVNM_004518
NM_172106
NM_172108
NM_172107
c.G1637A
c.G1667A
c.G1628A
c.G1721A
p.G546D
p.G556D
p.G543D
p.G574D
32.0-Fu2022 E
Trost2022 G
Zhou2022 GE
KCNQ2     SP0117583chr20:
62046225-62046225
AGintronicDe novo--Fu2022 E
Trost2022 G
KCNQ2     SP0117538chr20:
62038686-62038686
AGexonicDe novononsynonymous SNVNM_004518
NM_172106
NM_172108
NM_172107
c.T1846C
c.T1876C
c.T1837C
c.T1930C
p.Y616H
p.Y626H
p.Y613H
p.Y644H
16.35-Fu2022 E
Trost2022 G
Zhou2022 GE
KCNQ2     1-0380-003chr20:
62108992-62108995
TGGATintergenicDe novo--Yuen2017 G
KCNQ2     9-0027-003chr20:
62056076-62056077
ACAintronicDe novo--Trost2022 G
KCNQ2     1-1122-003chr20:
62047961-62047961
GAintronicDe novo--Trost2022 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-6Fu2022 E
Lim2017 E
Trost2022 G
KCNQ2     Bruno2021:IXchr20:
62076074-62076074
GA exonicDe novo--Bruno2021 E
KCNQ2     1-0329-004chr20:
62094819-62094819
CTintronicDe novo--Trost2022 G
Yuen2017 G
KCNQ2     2-1497-003chr20:
62093665-62093665
CTintronicDe novo--Trost2022 G
KCNQ2     2-1269-003chr20:
62055529-62055529
CTsplicingInheritedsplicing15.27-Jiang2013 G
KCNQ2     REACH000457chr20:
62073869-62073869
AGexonicnonsynonymous SNVNM_004518
NM_172106
NM_172107
NM_172108
NM_172109
c.T706C
c.T706C
c.T706C
c.T706C
c.T706C
p.W236R
p.W236R
p.W236R
p.W236R
p.W236R
17.16-Antaki2022 GE
KCNQ2     2-1723-003chr20:
62077460-62077463
CAGTTGintronicDe novo--Trost2022 G
KCNQ2     5-0049-003chr20:
62077134-62077134
GAintronicDe novo--Trost2022 G
KCNQ2     4-0019-003chr20:
62077134-62077134
GAintronicDe novo--Trost2022 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
KCNQ2     MSSNG00346-003chr20:
62063965-62063965
ATintronicDe novo--Trost2022 G
KCNQ2     SP0160594chr20:
62059737-62059737
TCexonicDe novosynonymous SNVNM_004518
NM_172106
NM_172107
NM_172108
c.A1170G
c.A1200G
c.A1200G
c.A1200G
p.K390K
p.K400K
p.K400K
p.K400K
--Trost2022 G
KCNQ2     1-0125-003chr20:
62042369-62042369
CAintronicDe novo2.507-Trost2022 G
Yuen2017 G
Zhou2022 GE
KCNQ2     Krgovic2022:019450chr20:
62038619-62038619
GAexonicUnknownnonsynonymous SNVNM_004518
NM_172106
NM_172108
NM_172107
c.C1913T
c.C1943T
c.C1904T
c.C1997T
p.P638L
p.P648L
p.P635L
p.P666L
18.249.015E-6Krgovic2022 E
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
--Trost2022 G
Yuen2017 G
Zhou2022 GE
KCNQ2     AU3911301chr20:
62089020-62089020
ACintronicDe novo--Trost2022 G
Yuen2017 G
KCNQ2     11075.p1chr20:
62070073-62070099
CCTGCAATTCATCAGGGTCAGGTCACACsplicingDe novosplicing--Dong2014 E
Kosmicki2017 E
Lowther2023 G
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
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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