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Results for "STXBP5L"
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
STXBP5L
5-0003-004
chr3:
120756142-120756142
G
A
intronic
De novo
-
-
Yuen2017
G
STXBP5L
1-0701-003
chr3:
120815953-120815955
TCC
TC
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU4392301
chr3:
120895417-120895417
A
C
intronic
De novo
-
-
Yuen2017
G
STXBP5L
10C105019
chr3:
120628487-120628487
G
A
exonic
De novo
nonsynonymous SNV
NM_001308330
NM_014980
c.G62A
c.G62A
p.G21D
p.G21D
14.6
-
Fu2022
E
STXBP5L
A8
chr3:
120883160-120883160
T
C
intronic
De novo
-
-
Wu2018
G
STXBP5L
1-0627-007
chr3:
120824443-120824443
A
G
intronic
De novo
-
-
Yuen2017
G
STXBP5L
2-1235-004
chr3:
120673793-120673794
CG
C
exonic
De novo
frameshift deletion
NM_001308330
NM_014980
c.197delG
c.197delG
p.R66fs
p.R66fs
-
-
Yuen2015
G
Yuen2017
G
STXBP5L
2-1361-003
chr3:
121018012-121018012
G
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
STXBP5L
AU3053302
chr3:
121045869-121045869
T
A
intronic
De novo
-
-
Yuen2017
G
STXBP5L
SP0027510
chr3:
120924755-120924755
A
ATT
intronic
De novo
-
-
Fu2022
E
STXBP5L
5-0046-003
chr3:
120693888-120693888
C
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU3680301
chr3:
121016556-121016556
G
A
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU4164301
chr3:
120693879-120693879
T
A
intronic
De novo
-
-
Yuen2017
G
STXBP5L
7-0191-003
chr3:
121050819-121050819
A
G
intronic
De novo
-
-
Yuen2017
G
STXBP5L
1-0482-003
chr3:
120704531-120704531
C
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU2139305
chr3:
121068109-121068109
G
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
1-0638-003
chr3:
120739120-120739120
G
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
2-1146-003
chr3:
120893437-120893437
C
G
intronic
De novo
-
-
Yuen2017
G
STXBP5L
A17
chr3:
120815389-120815389
A
G
intronic
De novo
-
-
Wu2018
G
STXBP5L
AU3912301
chr3:
120930336-120930336
C
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU063004
chr3:
121101577-121101577
A
C
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU4359301
chr3:
120701825-120701825
G
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
2-1370-003
chr3:
120628487-120628487
G
A
exonic
De novo
nonsynonymous SNV
NM_001308330
NM_014980
c.G62A
c.G62A
p.G21D
p.G21D
14.6
-
Jiang2013
G
Yuen2016
G
Yuen2017
G
STXBP5L
AU3881302
chr3:
120817528-120817528
G
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
More2023:15
chr3:
120952486-120952486
G
A
exonic
Inherited
nonsynonymous SNV
NM_001308330
NM_014980
c.G1135A
c.G1135A
p.V379M
p.V379M
16.24
0.0057
More2023
G
STXBP5L
AU4235303
chr3:
121081957-121081957
T
C
intronic
De novo
-
-
Yuen2017
G
STXBP5L
2-1425-003
chr3:
121003062-121003062
A
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
2-0070-004
chr3:
120628765-120628765
T
G
intronic
De novo
-
-
Yuen2017
G
STXBP5L
1-0408-003
chr3:
120933260-120933260
G
C
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
STXBP5L
7-0008-003
chr3:
120894687-120894687
T
A
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU4013301
chr3:
120847722-120847722
A
G
intronic
De novo
-
-
Yuen2017
G
STXBP5L
1-0455-004
chr3:
120802050-120802050
A
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU4168306
chr3:
120870832-120870832
C
G
intronic
De novo
-
-
Yuen2017
G
STXBP5L
AU1308303
chr3:
120697989-120697989
C
T
intronic
De novo
-
-
Yuen2017
G
STXBP5L
2-1521-003
chr3:
120812718-120812718
C
G
intronic
De novo
-
-
Yuen2017
G
STXBP5L
5-0014-004
chr3:
120850613-120850613
A
C
intronic
De 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 notes
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