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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		GAexonicDe novo, Unknownnonsynonymous 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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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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.
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