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Results for "STXBP1"

Variant Events: 49

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     P4276chr9:
130420659-130420659
GAexonicDe novononsynonymous SNVNM_001032221
NM_003165
c.G175A
c.G175A
p.E59K
p.E59K
36.0-O’Roak2014 T
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     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     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--Trost2022 G
Yuen2017 G
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
Trost2022 G
Zhou2022 GE
STXBP1     SP0112849chr9:
130430458-130430460
GGTGexonicDe novoframeshift deletionNM_001032221
NM_003165
c.895_896del
c.895_896del
p.V299fs
p.V299fs
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
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
Trost2022 G
Zhou2022 GE
STXBP1     SP0092922chr9:
130423387-130423389
CAGCexonicDe novoframeshift deletionNM_001032221
NM_003165
c.333_334del
c.333_334del
p.P111fs
p.P111fs
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
STXBP1     5-5030-003chr9:
130385336-130385336
ACintronicDe novo--Trost2022 G
STXBP1     HEN0060.p1chr9:
130438954-130438954
CGexonicMaternalnonsynonymous SNVNM_001032221
NM_003165
c.C1281G
c.C1281G
p.I427M
p.I427M
15.06-Guo2018 T
STXBP1     4-0062-003chr9:
130385599-130385600
GGTCintronicDe novo--Trost2022 G
STXBP1     GX0012.p1chr9:
130423410-130423410
GAexonicPaternalnonsynonymous SNVNM_001032221
NM_003165
c.G355A
c.G355A
p.V119I
p.V119I
12.63-Guo2018 T
STXBP1     5-5146-004chr9:
130435101-130435101
GAintronicDe novo--Trost2022 G
STXBP1     AU2250301chr9:
130436523-130436523
GAintronicDe novo--Trost2022 G
STXBP1     2-1547-003chr9:
130431283-130431286
CGCCGintronicDe novo--Trost2022 G
STXBP1     2-1547-003chr9:
130431289-130431292
TAGTAAAintronicDe novo--Trost2022 G
STXBP1     2-1547-003chr9:
130431262-130431268
TTAGCTGCCCintronicDe novo--Trost2022 G
STXBP1     2-1547-003chr9:
130431272-130431280
GTGGTGGCGCTCTACAintronicDe novo--Trost2022 G
STXBP1     1-0105-003chr9:
130388006-130388006
GAintronicDe novo--Trost2022 G
STXBP1     7-0379-003chr9:
130390066-130390066
GTintronicDe novo--Trost2022 G
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     M08545chr9:
130444735-130444735
GC/GexonicPaternal--Guo2018 T
STXBP1     SF0092922.p1chr9:
130423387-130423389
CAGCexonicframeshift deletionNM_001032221
NM_003165
c.333_334del
c.333_334del
p.P111fs
p.P111fs
--Wang2020 T
STXBP1     1-1159-003chr9:
130452010-130452010
CTintronicDe novo--Trost2022 G
STXBP1     G004769chr9:
130425623-130425623
GAexonicnonsynonymous SNVNM_001032221
NM_003165
c.G569A
c.G569A
p.R190Q
p.R190Q
36.0-Sanchis-Juan2023 G
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
Trost2022 G
Zhou2022 GE
STXBP1     ACGC_M26932chr9:
130425571-130425571
GAexonicPaternalnonsynonymous SNVNM_001032221
NM_003165
c.G517A
c.G517A
p.A173T
p.A173T
36.0-Wang2020 T
STXBP1     M26932chr9:
130425571-130425571
GAexonicPaternalnonsynonymous SNVNM_001032221
NM_003165
c.G517A
c.G517A
p.A173T
p.A173T
36.0-Guo2018 T
Wang2016 T
STXBP1     SP0117588chr9:
130423485-130423485
GAsplicingDe novosplicing20.9-Fu2022 E
Zhou2022 GE
STXBP1     SP0079786chr9:
130374722-130374722
ATintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
STXBP1     SP0019743chr9:
130453056-130453056
TCexonicDe novononsynonymous SNVNM_001032221c.T1705Cp.S569P19.99-Fu2022 E
Zhou2022 GE
STXBP1     G003426chr9:
130439033-130439033
GTsplicingsplicing29.1-Sanchis-Juan2023 G
STXBP1     M17663chr9:
130427532-130427532
CAexonicUnknownstopgainNM_001032221
NM_003165
c.C585A
c.C585A
p.Y195X
p.Y195X
35.0-Guo2018 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     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
Trost2022 G
Wang2020 T
Zhou2022 GE
STXBP1     2-0006-003chr9:
130444716-130444717
GCGexonicDe novoframeshift deletionNM_001032221
NM_003165
c.1580delC
c.1580delC
p.A527fs
p.A527fs
--Trost2022 G
Wang2020 T
Yuen2015 G
Yuen2017 G
Zhou2022 GE
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     Hu2022:13chr9:
130432187-130432187
CCCexonicMaternalframeshift insertionNM_001032221
NM_003165
c.913dupC
c.913dupC
p.R305fs
p.R305fs
--Hu2022 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     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
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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