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Results for "CDKL5"

Variant Events: 47

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
CDKL5     1-0986-003chrX:
18570371-18570376		AAAGAAAAAintronicDe novo--Yuen2017 G
CDKL5     M01813chrX:
18668586-18668586		CTexonicDe novostopgainNM_003159
NM_001037343		c.C2854T
c.C2854T		p.R952X
p.R952X		38.01.0E-4Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
CDKL5     14153.p1chrX:
18534425-18534425		GTintronicDe novo--Turner2016 G
CDKL5     7-0251-003chrX:
18669380-18669381		TGTGAGintronicDe novo--Yuen2017 G
CDKL5     M08767chrX:
18643288-18643288		ATexonicPaternalnonsynonymous SNVNM_003159
NM_001037343		c.A2417T
c.A2417T		p.K806I
p.K806I		28.4-Guo2018 T
CDKL5     M20612chrX:
18606108-18606108		GCexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.G589C
c.G589C		p.V197L
p.V197L		28.6-Guo2018 T
Wang2016 T
CDKL5     80001101063chrX:
18602382-18602382		GCsplicingDe novosplicing14.61-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CDKL5     M0327chrX:
18582616-18582616		CGexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.C119G
c.C119G		p.A40G
p.A40G		19.58-Xiong2019 ET
CDKL5     M0326chrX:
18525274-18525274		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G58C
c.G58C		p.G20R
p.G20R		20.5-Xiong2019 ET
CDKL5     M18380chrX:
18622630-18622630		GCexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.G1586C
c.G1586C		p.S529T
p.S529T		11.192.28E-5Guo2018 T
Wang2016 T
CDKL5     AU3263302chrX:
18511547-18511548		ACACCintronicDe novo--Yuen2017 G
CDKL5     M0328chrX:
18582595-18582595		AGsplicingDe novosplicing18.57-Xiong2019 ET
CDKL5     M0323chrX:
18593610-18593610		AAAexonicDe novoframeshift insertionNM_003159
NM_001037343		c.282dupA
c.282dupA		p.K94fs
p.K94fs		--Xiong2019 ET
CDKL5     P0076chrX:
18593490-18593494		AGAAAAexonicDe novoframeshift deletionNM_003159
NM_001037343		c.163_166del
c.163_166del		p.E55fs
p.E55fs		--Xiong2019 ET
CDKL5     M0325chrX:
18598086-18598086		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G401C
c.G401C		p.R134P
p.R134P		27.3-Xiong2019 ET
CDKL5     GX0251.p1chrX:
18627650-18627650		CGexonicDe novostopgainNM_003159
NM_001037343		c.C2112G
c.C2112G		p.Y704X
p.Y704X		41.0-Guo2018 T
CDKL5     M0324chrX:
18622154-18622155		CCCexonicDe novoframeshift deletionNM_003159
NM_001037343		c.1111delC
c.1111delC		p.L371fs
p.L371fs		--Xiong2019 ET
CDKL5     Schaaf2011:22chrX:
18671608-18671608		GAexonicUnknownnonsynonymous SNVNM_003159
NM_001037343		c.G3037A
c.G3037A		p.V1013I
p.V1013I		10.941.192E-5Schaaf2011 T
CDKL5     7-0219-003chrX:
18655543-18655551		ATGGTGGTGATGGTGGTGGTGintronicDe novo--Yuen2017 G
CDKL5     M08425chrX:
18622765-18622765		CTexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.C1721T
c.C1721T		p.P574L
p.P574L		15.994.558E-5Guo2018 T
CDKL5     Li2017:20272chrX:
18622983-18622983		CAexonicUnknownnonsynonymous SNVNM_003159
NM_001037343		c.C1939A
c.C1939A		p.P647T
p.P647T		20.5-Li2017 T
CDKL5     AU095803chrX:
18668586-18668586		CTexonicMaternalstopgainNM_003159
NM_001037343		c.C2854T
c.C2854T		p.R952X
p.R952X		38.01.0E-4Zhou2019 T
CDKL5     M10006chrX:
18631388-18631388		GAexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.G2269A
c.G2269A		p.D757N
p.D757N		29.11.14E-5Guo2018 T
CDKL5     Schaaf2011:21chrX:
18616706-18616706		AGexonicUnknownnonsynonymous SNVNM_003159
NM_001037343		c.A950G
c.A950G		p.H317R
p.H317R		17.442.281E-5Schaaf2011 T
CDKL5     Yamamoto2019:5chrX:
18627017-18627018		ACAexonicDe novoframeshift deletionNM_003159
NM_001037343		c.2032delC
c.2032delC		p.R678fs
p.R678fs		--Yamamoto2019 T
CDKL5     M26902chrX:
18622045-18622045		CTexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.C1001T
c.C1001T		p.A334V
p.A334V		15.11-Guo2018 T
CDKL5     M20272chrX:
18622983-18622983		CAexonicMaternal, Unknownnonsynonymous SNVNM_003159
NM_001037343		c.C1939A
c.C1939A		p.P647T
p.P647T		20.5-Guo2018 T
Wang2016 T
CDKL5     Chen2021:38chrX:
18593610-18593610		AAAexonicDe novoframeshift insertionNM_003159
NM_001037343		c.282dupA
c.282dupA		p.K94fs
p.K94fs		--Chen2021 GET
CDKL5     Chen2021:37chrX:
18593490-18593494		AGAAAAexonicDe novoframeshift deletionNM_003159
NM_001037343		c.163_166del
c.163_166del		p.E55fs
p.E55fs		--Chen2021 GET
CDKL5     M13442chrX:
18638000-18638000		AGexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.A2290G
c.A2290G		p.N764D
p.N764D		14.52-Wang2016 T
CDKL5     Chen2021:40chrX:
18598086-18598086		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G401C
c.G401C		p.R134P
p.R134P		27.3-Chen2021 GET
CDKL5     Chen2021:39chrX:
18622154-18622155		CCCexonicDe novoframeshift deletionNM_003159
NM_001037343		c.1111delC
c.1111delC		p.L371fs
p.L371fs		--Chen2021 GET
CDKL5     Codina-Sola2015:ASD_1chrX:
18622984-18622984		CTexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.C1940T
c.C1940T		p.P647L
p.P647L		22.6-Codina-Sola2015 E
CDKL5     M26436chrX:
18668586-18668586		CTexonicMaternalstopgainNM_003159
NM_001037343		c.C2854T
c.C2854T		p.R952X
p.R952X		38.01.0E-4Wang2016 T
CDKL5     AU2433302chrX:
18573392-18573398		ACCCCCCACCCCCCCintronicDe novo--Yuen2017 G
CDKL5     Chen2021:42chrX:
18582616-18582616		CGexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.C119G
c.C119G		p.A40G
p.A40G		19.58-Chen2021 GET
CDKL5     Chen2021:41chrX:
18525274-18525274		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G58C
c.G58C		p.G20R
p.G20R		20.5-Chen2021 GET
CDKL5     Chen2021:43chrX:
18582595-18582595		AGsplicingDe novosplicing18.57-Chen2021 GET
CDKL5     HN0034.p1chrX:
18671639-18671639		AGexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.A3068G
c.A3068G		p.E1023G
p.E1023G		12.92-Guo2018 T
CDKL5     GX0214.p1chrX:
18668599-18668599		GAexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.G2867A
c.G2867A		p.R956H
p.R956H		12.325.697E-5Guo2018 T
CDKL5     60-2027chrX:
18639774-18639774		GAintronicInherited--Michaelson2012 G
CDKL5     AU1909304chrX:
18470939-18470968		GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTintronicDe novo--Yuen2017 G
CDKL5     GX0316.p1chrX:
18622983-18622983		CAexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.C1939A
c.C1939A		p.P647T
p.P647T		20.5-Guo2018 T
CDKL5     M30813chrX:
18622630-18622630		GCexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.G1586C
c.G1586C		p.S529T
p.S529T		11.192.28E-5Guo2018 T
CDKL5     Yin2020:139chrX:
18622431-18622431		AGexonicnonsynonymous SNVNM_003159
NM_001037343		c.A1387G
c.A1387G		p.K463E
p.K463E		13.932.288E-5Yin2020 T
CDKL5     Mahjani2021:139chrX:
18602382-18602382		GCsplicingsplicing14.61-Mahjani2021 E
CDKL5     GX0431.p1chrX:
18622983-18622983		CAexonicPaternalnonsynonymous SNVNM_003159
NM_001037343		c.C1939A
c.C1939A		p.P647T
p.P647T		20.5-Guo2018 T
Source Variant Information

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Source:

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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