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Results for "STXBP2"

Variant Events: 11

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
STXBP2     SP0034444chr19:
7709578-7709578
GAexonicDe novononsynonymous SNVNM_001127396
NM_001272034
NM_006949
c.G1177A
c.G1219A
c.G1186A
p.A393T
p.A407T
p.A396T
4.8578.358E-6Feliciano2019 E
STXBP2     G01-GEA-292-HIchr19:
7712270-7712270
GAexonicDe novosynonymous SNVNM_001127396
NM_001272034
NM_006949
c.G1560A
c.G1602A
c.G1569A
p.K520K
p.K534K
p.K523K
-7.0E-4Satterstrom2020 E
STXBP2     1-0269-003chr19:
7725123-7725123
GTintergenicDe novo--Yuen2017 G
STXBP2     1-0395-004chr19:
7718294-7718294
CAintergenicDe novo--Yuen2017 G
STXBP2     iHART2515chr19:
7706918-7706918
AGsplicingPaternalsplicing10.768.357E-6Ruzzo2019 G
STXBP2     iHART2516chr19:
7706918-7706918
AGsplicingPaternalsplicing10.768.357E-6Ruzzo2019 G
STXBP2     7-0179-003chr19:
7714218-7714218
CTintergenicDe novo--Yuen2017 G
STXBP2     AU024105chr19:
7717080-7717085
AGGGGGAGGGGintergenicDe novo--Yuen2017 G
STXBP2     AU4372309chr19:
7713734-7713734
GAdownstreamDe novo--Yuen2017 G
STXBP2     14452.p1chr19:
7707910-7707910
GTexonicMosaic, De novosynonymous SNVNM_001127396
NM_001272034
NM_006949
c.G993T
c.G1035T
c.G1002T
p.P331P
p.P345P
p.P334P
--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
STXBP2     AU075210chr19:
7717095-7717095
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
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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