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Results for "STXBP5L"

Variant Events: 33

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
STXBP5L     5-0003-004chr3:
120756142-120756142
GAintronicDe novo--Yuen2017 G
STXBP5L     1-0701-003chr3:
120815953-120815955
TCCTCintronicDe novo--Yuen2017 G
STXBP5L     AU4392301chr3:
120895417-120895417
ACintronicDe novo--Yuen2017 G
STXBP5L     A8chr3:
120883160-120883160
TCintronicDe novo--Wu2018 G
STXBP5L     1-0627-007chr3:
120824443-120824443
AGintronicDe novo--Yuen2017 G
STXBP5L     2-1235-004chr3:
120673793-120673794
CGCexonicDe novoframeshift deletionNM_001308330
NM_014980
c.197delG
c.197delG
p.R66fs
p.R66fs
--Yuen2015 G
Yuen2017 G
STXBP5L     2-1361-003chr3:
121018012-121018012
GTintronicDe novo--Yuen2016 G
Yuen2017 G
STXBP5L     AU3053302chr3:
121045869-121045869
TAintronicDe novo--Yuen2017 G
STXBP5L     5-0046-003chr3:
120693888-120693888
CTintronicDe novo--Yuen2017 G
STXBP5L     AU3680301chr3:
121016556-121016556
GAintronicDe novo--Yuen2017 G
STXBP5L     AU4164301chr3:
120693879-120693879
TAintronicDe novo--Yuen2017 G
STXBP5L     7-0191-003chr3:
121050819-121050819
AGintronicDe novo--Yuen2017 G
STXBP5L     1-0482-003chr3:
120704531-120704531
CTintronicDe novo--Yuen2017 G
STXBP5L     AU2139305chr3:
121068109-121068109
GTintronicDe novo--Yuen2017 G
STXBP5L     1-0638-003chr3:
120739120-120739120
GTintronicDe novo--Yuen2017 G
STXBP5L     2-1146-003chr3:
120893437-120893437
CGintronicDe novo--Yuen2017 G
STXBP5L     A17chr3:
120815389-120815389
AGintronicDe novo--Wu2018 G
STXBP5L     AU3912301chr3:
120930336-120930336
CTintronicDe novo--Yuen2017 G
STXBP5L     AU063004chr3:
121101577-121101577
ACintronicDe novo--Yuen2017 G
STXBP5L     AU4359301chr3:
120701825-120701825
GTintronicDe novo--Yuen2017 G
STXBP5L     2-1370-003chr3:
120628487-120628487
GAexonicDe novononsynonymous SNVNM_001308330
NM_014980
c.G62A
c.G62A
p.G21D
p.G21D
14.6-Jiang2013 G
Yuen2016 G
Yuen2017 G
STXBP5L     AU3881302chr3:
120817528-120817528
GTintronicDe novo--Yuen2017 G
STXBP5L     AU4235303chr3:
121081957-121081957
TCintronicDe novo--Yuen2017 G
STXBP5L     2-1425-003chr3:
121003062-121003062
ATintronicDe novo--Yuen2017 G
STXBP5L     2-0070-004chr3:
120628765-120628765
TGintronicDe novo--Yuen2017 G
STXBP5L     1-0408-003chr3:
120933260-120933260
GCintronicDe novo--Yuen2016 G
Yuen2017 G
STXBP5L     7-0008-003chr3:
120894687-120894687
TAintronicDe novo--Yuen2017 G
STXBP5L     AU4013301chr3:
120847722-120847722
AGintronicDe novo--Yuen2017 G
STXBP5L     1-0455-004chr3:
120802050-120802050
ATintronicDe novo--Yuen2017 G
STXBP5L     AU4168306chr3:
120870832-120870832
CGintronicDe novo--Yuen2017 G
STXBP5L     AU1308303chr3:
120697989-120697989
CTintronicDe novo--Yuen2017 G
STXBP5L     2-1521-003chr3:
120812718-120812718
CGintronicDe novo--Yuen2017 G
STXBP5L     5-0014-004chr3:
120850613-120850613
ACintronicDe 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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