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Results for "KCNQ3"

Variant Events: 44

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
KCNQ3     SJD_49chr8:
133142164-133142164
GAexonicMaternalnonsynonymous SNVNM_001204824
NM_004519
c.C1604T
c.C1964T
p.T535M
p.T655M
4.2352.0E-4Toma2013 E
KCNQ3     SP0151515chr8:
133492504-133492504
CAexonicDe novosynonymous SNVNM_004519c.G276Tp.P92P--Fu2022 E
KCNQ3     2-1693-003chr8:
133178006-133178006
ATintronicDe novo--Yuen2017 G
KCNQ3     ACGC_GX0344.p1chr8:
133196523-133196523
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G209A
c.G569A
p.R70Q
p.R190Q
36.0-Wang2020 T
KCNQ3     AU_9_Cchr8:
133192493-133192493
GAexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.C328T
c.C688T
p.R110C
p.R230C
24.1-Fu2022 E
Satterstrom2020 E
KCNQ3     1-0896-003chr8:
133323084-133323084
GAintronicDe novo--Yuen2017 G
KCNQ3     AU2792302chr8:
133341513-133341513
CGintronicDe novo--Yuen2017 G
KCNQ3     Sands2019:7chr8:
133192492-133192492
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G329A
c.G689A
p.R110H
p.R230H
27.08.254E-6Sands2019 T
KCNQ3     Sands2019:6chr8:
133192493-133192493
GAexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.C328T
c.C688T
p.R110C
p.R230C
24.1-Sands2019 T
KCNQ3     Sands2019:9chr8:
133192493-133192493
GAexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.C328T
c.C688T
p.R110C
p.R230C
24.1-Sands2019 T
KCNQ3     1-0354-006chr8:
133148118-133148118
GGTintronicDe novo--Yuen2017 G
KCNQ3     Sands2019:8chr8:
133192493-133192493
GAexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.C328T
c.C688T
p.R110C
p.R230C
24.1-Sands2019 T
KCNQ3     111291chr8:
133187845-133187845
GAexonicnonsynonymous SNVNM_001204824
NM_004519
c.C428T
c.C788T
p.T143M
p.T263M
25.9-Woodbury-Smith2022 E
KCNQ3     Sands2019:2chr8:
133192493-133192493
GTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.C328A
c.C688A
p.R110S
p.R230S
18.64-Sands2019 T
KCNQ3     Sands2019:1chr8:
133192492-133192492
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G329A
c.G689A
p.R110H
p.R230H
27.08.254E-6Sands2019 T
KCNQ3     2-1359-004chr8:
133284938-133284938
CTintronicDe novo--Yuen2017 G
KCNQ3     BCM_9136148chr8:
133192492-133192492
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G329A
c.G689A
p.R110H
p.R230H
27.08.254E-6Wang2020 T
KCNQ3     MAC1270chr8:
133192492-133192492
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G329A
c.G689A
p.R110H
p.R230H
27.08.254E-6Fu2022 E
Satterstrom2020 E
KCNQ3     BCM_9259997chr8:
133184861-133184861
GAexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.C764T
c.C1124T
p.A255V
p.A375V
21.6-Wang2020 T
KCNQ3     A10chr8:
133377356-133377356
CAintronicDe novo--Wu2018 G
KCNQ3     BCM_8973129chr8:
133192491-133192491
GAexonicDe novosynonymous SNVNM_001204824
NM_004519
c.C330T
c.C690T
p.R110R
p.R230R
-8.253E-6Wang2020 T
KCNQ3     AU1795303chr8:
133365922-133365922
GAintronicDe novo--Yuen2017 G
KCNQ3     80001104103chr8:
133192492-133192492
CAexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G329T
c.G689T
p.R110L
p.R230L
24.6-Fu2022 E
Satterstrom2020 E
KCNQ3     Leuven_350183chr8:
133192474-133192474
CTexonicPaternalnonsynonymous SNVNM_001204824
NM_004519
c.G347A
c.G707A
p.R116H
p.R236H
33.0-Wang2020 T
KCNQ3     Sands2019:10chr8:
133192501-133192501
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G320A
c.G680A
p.R107Q
p.R227Q
26.7-Sands2019 T
KCNQ3     AU4188302chr8:
133436083-133436083
ATintronicDe novo--Yuen2017 G
KCNQ3     2-1313-003chr8:
133225318-133225318
TAintronicDe novo--Yuen2016 G
KCNQ3     ACGC_GZ0004.p1chr8:
133187706-133187706
CTexonicMaternalstopgainNM_001204824
NM_004519
c.G567A
c.G927A
p.W189X
p.W309X
37.0-Wang2020 T
KCNQ3     BCM_9284407chr8:
133192492-133192492
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G329A
c.G689A
p.R110H
p.R230H
27.08.254E-6Wang2020 T
KCNQ3     1-0065-005chr8:
133449524-133449524
CCAintronicDe novo--Yuen2017 G
KCNQ3     1360JS0006chr8:
133192475-133192475
GAexonicUnknown, De novononsynonymous SNVNM_001204824
NM_004519
c.C346T
c.C706T
p.R116C
p.R236C
26.4-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
KCNQ3     AGRE_05C48974chr8:
133198376-133198376
CTexonicPaternalnonsynonymous SNVNM_001204824
NM_004519
c.G79A
c.G439A
p.E27K
p.E147K
24.2-Wang2020 T
KCNQ3     AU3645301chr8:
133219170-133219170
GCintronicDe novo--Yuen2017 G
KCNQ3     AU2975301chr8:
133325282-133325282
GAintronicDe novo--Yuen2017 G
KCNQ3     Valentino2021:18chr8:
133192493-133192493
GAexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.C328T
c.C688T
p.R110C
p.R230C
24.1-Valentino2021 E
KCNQ3     13143.p1chr8:
133334008-133334008
GAintronicDe novo--Wilfert2021 G
KCNQ3     Iowa_102_4_a.2.1chr8:
133141567-133141567
GAexonicUnknownnonsynonymous SNVNM_001204824
NM_004519
c.C2201T
c.C2561T
p.S734L
p.S854L
28.41.648E-5Wang2020 T
KCNQ3     ACGC_M15027chr8:
133141567-133141567
GAexonicUnknownnonsynonymous SNVNM_001204824
NM_004519
c.C2201T
c.C2561T
p.S734L
p.S854L
28.41.648E-5Wang2020 T
KCNQ3     AU002406chr8:
133429568-133429568
GAintronicDe novo--Yuen2017 G
KCNQ3     AU3846303chr8:
133208424-133208424
AGintronicDe novo--Yuen2017 G
KCNQ3     3-0442-000chr8:
133487910-133487910
GAintronicDe novo--Yuen2016 G
Yuen2017 G
KCNQ3     SF0117913.p4chr8:
133192492-133192492
CTexonicnonsynonymous SNVNM_001204824
NM_004519
c.G329A
c.G689A
p.R110H
p.R230H
27.08.254E-6Wang2020 T
KCNQ3     SP0117916chr8:
133192492-133192492
CTexonicDe novononsynonymous SNVNM_001204824
NM_004519
c.G329A
c.G689A
p.R110H
p.R230H
27.08.254E-6Antaki2022 GE
Fu2022 E
KCNQ3     AGRE_03C23225chr8:
133150250-133150250
GAexonicUnknownnonsynonymous SNVNM_001204824
NM_004519
c.C1222T
c.C1582T
p.R408C
p.R528C
30.0-Wang2020 T
Source Variant Information

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Source:

Paper alias:

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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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