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Results for "STXBP1"

Variant Events: 24

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     HEN0060.p1chr9:
130438954-130438954
CGexonicMaternalnonsynonymous SNVNM_001032221
NM_003165
c.C1281G
c.C1281G
p.I427M
p.I427M
15.06-Guo2018 T
STXBP1     2319chr9:
130425566-130425566
GAexonicMaternalnonsynonymous SNVNM_001032221
NM_003165
c.G512A
c.G512A
p.R171H
p.R171H
33.04.119E-5Wang2020 T
Wang2020 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     M17663chr9:
130427532-130427532
CAexonicUnknownstopgainNM_001032221
NM_003165
c.C585A
c.C585A
p.Y195X
p.Y195X
35.0-Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 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     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
Wang2020 T
Wang2020 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     AU4235303chr9:
130432927-130432927
GAintronicDe novo--Yuen2017 G
STXBP1     09C92671chr9:
130444788-130444788
CTexonicDe novononsynonymous SNVNM_001032221
NM_003165
c.C1651T
c.C1651T
p.R551C
p.R551C
34.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 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     80001101481chr9:
130444788-130444788
CTexonicDe novononsynonymous SNVNM_001032221
NM_003165
c.C1651T
c.C1651T
p.R551C
p.R551C
34.0-Lim2017 E
Satterstrom2020 E
STXBP1     M08545chr9:
130444735-130444735
GC/GexonicPaternal--Guo2018 T
STXBP1     SF0142379.p1chr9:
130425622-130425622
CTexonicDe novononsynonymous SNVNM_001032221
NM_003165
c.C568T
c.C568T
p.R190W
p.R190W
22.6-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-Lim2017 E
Satterstrom2020 E
STXBP1     P011chr9:
130444839-130444839
GAexonicDe novononsynonymous SNVNM_001032221
NM_003165
c.G1702A
c.G1702A
p.G568R
p.G568S
36.0-Long2019 ET
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     SF0117588.p1chr9:
130423485-130423485
GAsplicingDe novosplicing20.9-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
Wang2020 T
Wang2020 T
STXBP1     SF0092922.p1chr9:
130423387-130423389
CAGCexonicDe novoframeshift deletionNM_001032221
NM_003165
c.333_334del
c.333_334del
p.P111fs
p.P111fs
--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
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