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Results for "STXBP1"

Variant Events: 36

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
STXBP1     ITAN_2319chr9:
130425566-130425566		GAexonicMaternalnonsynonymous SNVNM_001032221
NM_003165		c.G512A
c.G512A		p.R171H
p.R171H		33.04.119E-5Wang2020 T
STXBP1     MR-NET001chr9:
130422307-130422308		AGAsplicingDe novosplicing--O’Roak2014 T
STXBP1     SP0117588chr9:
130423485-130423485		GAsplicingDe novosplicing20.9-Fu2022 E
STXBP1     P4276chr9:
130420659-130420659		GAexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G175A
c.G175A		p.E59K
p.E59K		36.0-O’Roak2014 T
STXBP1     SP0079786chr9:
130374722-130374722		ATintronicDe novo--Fu2022 E
STXBP1     ES07E0046chr9:
130422363-130422363		GCexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G301C
c.G301C		p.A101P
p.A101P		36.0-O’Roak2014 T
STXBP1     TRE_2086chr9:
130428545-130428545		AGexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.A764G
c.A764G		p.D255G
p.D255G		27.1-Fu2022 E
STXBP1     SP0019743chr9:
130453056-130453056		TCexonicDe novononsynonymous SNVNM_001032221c.T1705Cp.S569P19.99-Fu2022 E
STXBP1     M17663chr9:
130427532-130427532		CAexonicUnknownstopgainNM_001032221
NM_003165		c.C585A
c.C585A		p.Y195X
p.Y195X		35.0-Guo2018 T
Wang2016 T
STXBP1     M12428 Complex Event; expand row to view variants  De novoframeshift deletionNM_001032221
NM_003165		c.695_696del
c.695_696del		p.I232fs
p.I232fs		--Guo2018 T
Li2017 T
Stessman2017 T
Stessman2017 T
Wang2016 T
STXBP1     M20635chr9:
130422318-130422318		TCexonicMaternalnonsynonymous SNVNM_001032221
NM_003165		c.T256C
c.T256C		p.S86P
p.S86P		15.96-Guo2018 T
Wang2016 T
STXBP1     ACGC_M17663chr9:
130427532-130427532		CAexonicUnknownstopgainNM_001032221
NM_003165		c.C585A
c.C585A		p.Y195X
p.Y195X		35.0-Wang2020 T
STXBP1     AU4235303chr9:
130432927-130432927		GAintronicDe novo--Yuen2017 G
STXBP1     09C92671chr9:
130444788-130444788		CTexonicDe novo, Unknownnonsynonymous SNVNM_001032221
NM_003165		c.C1651T
c.C1651T		p.R551C
p.R551C		34.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
STXBP1     80001101481chr9:
130444788-130444788		CTexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.C1651T
c.C1651T		p.R551C
p.R551C		34.0-Fu2022 E
Lim2017 E
Satterstrom2020 E
STXBP1     SP0112849chr9:
130430458-130430460		GGTGexonicDe novoframeshift deletionNM_001032221
NM_003165		c.895_896del
c.895_896del		p.V299fs
p.V299fs		--Antaki2022 GE
Fu2022 E
STXBP1     P011chr9:
130444839-130444839		GAexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G1702A
c.G1702A		p.G568R
p.G568S		36.0-Long2019 ET
STXBP1     Ishay2021:32chr9:
130422330-130422330		GAexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G268A
c.G268A		p.D90N
p.D90N		36.0-Ishay2021 E
STXBP1     SP0142379chr9:
130425622-130425622		CTexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.C568T
c.C568T		p.R190W
p.R190W		22.6-Antaki2022 GE
Fu2022 E
STXBP1     SP0092922chr9:
130423387-130423389		CAGCexonicDe novoframeshift deletionNM_001032221
NM_003165		c.333_334del
c.333_334del		p.P111fs
p.P111fs		--Antaki2022 GE
Fu2022 E
STXBP1     HEN0060.p1chr9:
130438954-130438954		CGexonicMaternalnonsynonymous SNVNM_001032221
NM_003165		c.C1281G
c.C1281G		p.I427M
p.I427M		15.06-Guo2018 T
STXBP1     GX0012.p1chr9:
130423410-130423410		GAexonicPaternalnonsynonymous SNVNM_001032221
NM_003165		c.G355A
c.G355A		p.V119I
p.V119I		12.63-Guo2018 T
STXBP1     2-0006-003chr9:
130444716-130444717		GCGexonicDe novoframeshift deletionNM_001032221
NM_003165		c.1580delC
c.1580delC		p.A527fs
p.A527fs		--Wang2020 T
Yuen2015 G
Yuen2017 G
STXBP1     M30943chr9:
130423440-130423440		ATexonicMaternalnonsynonymous SNVNM_001032221
NM_003165		c.A385T
c.A385T		p.T129S
p.T129S		23.8-Guo2018 T
STXBP1     M11448chr9:
130374692-130374692		AGexonicMaternalnonsynonymous SNVNM_001032221
NM_003165		c.A10G
c.A10G		p.I4V
p.I4V		11.3-Guo2018 T
Wang2016 T
STXBP1     SF0142379.p1chr9:
130425622-130425622		CTexonicnonsynonymous SNVNM_001032221
NM_003165		c.C568T
c.C568T		p.R190W
p.R190W		22.6-Wang2020 T
STXBP1     SF0117588.p1chr9:
130423485-130423485		GAsplicingsplicing20.9-Wang2020 T
STXBP1     Hu2022:13chr9:
130432187-130432187		CCCexonicMaternalframeshift insertionNM_001032221
NM_003165		c.913dupC
c.913dupC		p.R305fs
p.R305fs		--Hu2022 T
STXBP1     M08545chr9:
130444735-130444735		GC/GexonicPaternal--Guo2018 T
STXBP1     ACGC_M12428chr9:
130428475-130428477		ATCAexonicDe novoframeshift deletionNM_001032221
NM_003165		c.695_696del
c.695_696del		p.I232fs
p.I232fs		--Wang2020 T
STXBP1     SF0092922.p1chr9:
130423387-130423389		CAGCexonicframeshift deletionNM_001032221
NM_003165		c.333_334del
c.333_334del		p.P111fs
p.P111fs		--Wang2020 T
STXBP1     G01-GEA-88-HIchr9:
130428532-130428532		GAexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G751A
c.G751A		p.A251T
p.A251T		35.0-Fu2022 E
Lim2017 E
Satterstrom2020 E
STXBP1     ACGC_M26932chr9:
130425571-130425571		GAexonicPaternalnonsynonymous SNVNM_001032221
NM_003165		c.G517A
c.G517A		p.A173T
p.A173T		36.0-Wang2020 T
STXBP1     Mahjani2021:134chr9:
130444788-130444788		CTexonicnonsynonymous SNVNM_001032221
NM_003165		c.C1651T
c.C1651T		p.R551C
p.R551C		34.0-Mahjani2021 E
STXBP1     Mahjani2021:133chr9:
130438087-130438087		TGexonicnonsynonymous SNVNM_001032221
NM_003165		c.T1115G
c.T1115G		p.L372R
p.L372R		26.4-Mahjani2021 E
STXBP1     M26932chr9:
130425571-130425571		GAexonicPaternalnonsynonymous SNVNM_001032221
NM_003165		c.G517A
c.G517A		p.A173T
p.A173T		36.0-Guo2018 T
Wang2016 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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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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