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Results for "STXBP5L"

Variant Events: 66

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--Trost2022 G
Yuen2017 G
STXBP5L     7-0324-003chr3:
120776043-120776043		AGintronicDe novo--Trost2022 G
STXBP5L     3-0134-001chr3:
120782074-120782074		TCintronicDe novo--Trost2022 G
STXBP5L     3-0802-000chr3:
120732477-120732477		CGintronicDe novo--Trost2022 G
STXBP5L     10C105019chr3:
120628487-120628487		GAexonicDe novononsynonymous SNVNM_001308330
NM_014980		c.G62A
c.G62A		p.G21D
p.G21D		14.6-Fu2022 E
STXBP5L     MSSNG00339-004chr3:
120773123-120773123		ATintronicDe novo--Trost2022 G
STXBP5L     A8chr3:
120883160-120883160		TCintronicDe novo--Wu2018 G
STXBP5L     1-1050-003chr3:
120696518-120696518		ATintronicDe novo--Trost2022 G
STXBP5L     3-0345-001chr3:
120701613-120701613		CGintronicDe novo--Trost2022 G
STXBP5L     1-0627-007chr3:
120824443-120824443		AGintronicDe novo--Yuen2017 G
STXBP5L     MSSNG00405-003chr3:
120670648-120670648		CTintronicDe novo--Trost2022 G
STXBP5L     2-1235-004chr3:
120673793-120673794		CGCexonicDe novoframeshift deletionNM_001308330
NM_014980		c.197delG
c.197delG		p.R66fs
p.R66fs		--Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
STXBP5L     1-1051-003chr3:
120671750-120671751		ATAintronicDe novo--Trost2022 G
STXBP5L     MSSNG00168-003chr3:
120900199-120900199		GTintronicDe novo--Trost2022 G
STXBP5L     MSSNG00345-003chr3:
120906729-120906729		GAintronicDe novo--Trost2022 G
STXBP5L     MT_40.3chr3:
120852978-120852978		AGintronicDe novo--Trost2022 G
STXBP5L     MSSNG00108-003chr3:
120853275-120853275		AGintronicDe novo--Trost2022 G
STXBP5L     7-0483-003chr3:
120829522-120829522		CTintronicDe novo--Trost2022 G
STXBP5L     MSSNG00370-003chr3:
120835374-120835374		TCintronicDe novo--Trost2022 G
STXBP5L     7-0456-003chr3:
120782630-120782630		TCintronicDe novo--Trost2022 G
STXBP5L     2-1456-004chr3:
120802279-120802279		TGintronicDe novo--Trost2022 G
STXBP5L     REACH000724chr3:
121064317-121064317		CGintronicDe novo--Trost2022 G
STXBP5L     MT_186.4chr3:
121080366-121080366		TCintronicDe novo--Trost2022 G
STXBP5L     SJD_61.3chr3:
121055988-121055988		TCintronicDe novo--Trost2022 G
STXBP5L     7-0191-003chr3:
121050819-121050819		AGintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     MT_186.4chr3:
121063931-121063931		TAintronicDe novo--Trost2022 G
STXBP5L     5-5025-004chr3:
120991310-120991310		AGintronicDe novo--Trost2022 G
STXBP5L     1-1090-003chr3:
121049164-121049164		TCintronicDe novo--Trost2022 G
STXBP5L     4-0062-003chr3:
120948825-120948825		TAintronicDe novo--Trost2022 G
STXBP5L     AU2139305chr3:
121068109-121068109		GTintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     2-1734-004chr3:
120964326-120964326		AGintronicDe novo--Trost2022 G
STXBP5L     1-0638-003chr3:
120739120-120739120		GTintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     2-1146-003chr3:
120893437-120893437		CGintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     AU3912301chr3:
120930336-120930336		CTintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     1-1045-003chr3:
121114810-121114810		GAintronicDe novo--Trost2022 G
STXBP5L     AU063004chr3:
121101577-121101577		ACintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     3-0374-000chr3:
121143626-121143626		TCdownstreamDe novo--Trost2022 G
STXBP5L     4-0069-003chr3:
121101442-121101442		TCintronicDe novo--Trost2022 G
STXBP5L     AU4359301chr3:
120701825-120701825		GTintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     REACH000701chr3:
121108252-121108252		GAintronicDe novo--Trost2022 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
Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE
STXBP5L     AU3881302chr3:
120817528-120817528		GTintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     2-1425-003chr3:
121003062-121003062		ATintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     2-0070-004chr3:
120628765-120628765		TGintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     1-0408-003chr3:
120933260-120933260		GCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
STXBP5L     AU4013301chr3:
120847722-120847722		AGintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     1-0455-004chr3:
120802050-120802050		ATintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     AU4168306chr3:
120870832-120870832		CGintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     AU1308303chr3:
120697989-120697989		CTintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     1-0701-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
STXBP5L     AU4392301chr3:
120895417-120895417		ACintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     2-1361-003chr3:
121018012-121018012		GTintronicDe novo--Yuen2016 G
Yuen2017 G
STXBP5L     AU3053302chr3:
121045869-121045869		TAintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     SP0027510chr3:
120924755-120924755		AATTintronicDe novo--Fu2022 E
STXBP5L     5-0046-003chr3:
120693888-120693888		CTintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     AU3680301chr3:
121016556-121016556		GAintronicDe novo--Yuen2017 G
STXBP5L     AU4164301chr3:
120693879-120693879		TAintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     1-0482-003chr3:
120704531-120704531		CTintronicDe novo--Yuen2017 G
STXBP5L     A17chr3:
120815389-120815389		AGintronicDe novo--Wu2018 G
STXBP5L     More2023:15chr3:
120952486-120952486		GAexonicInheritednonsynonymous SNVNM_001308330
NM_014980		c.G1135A
c.G1135A		p.V379M
p.V379M		16.240.0057More2023 G
STXBP5L     AU4235303chr3:
121081957-121081957		TCintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     7-0008-003chr3:
120894687-120894687		TAintronicDe novo--Yuen2017 G
STXBP5L     4-0062-003chr3:
120633389-120633391		GAGAAAintronicDe novo--Trost2022 G
STXBP5L     3-0650-000chr3:
120667105-120667110		TAATAATintronicDe novo--Trost2022 G
STXBP5L     2-1521-003chr3:
120812718-120812718		CGintronicDe novo--Trost2022 G
Yuen2017 G
STXBP5L     5-0014-004chr3:
120850613-120850613		ACintronicDe novo--Trost2022 G
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
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