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Results for "STXBP5"

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
STXBP5     211-5213-3chr6:
147599216-147599217
GGAexonicPaternalnonframeshift substitutionNM_001127715
NM_139244
c.715_715A
c.715_715A
N/A
N/A
--Stessman2017 T
STXBP5     AU2072302chr6:
147757436-147757436
CTintergenicDe novo--Yuen2017 G
STXBP5     1-0669-003chr6:
147704069-147704069
GAexonicDe novononsynonymous SNVNM_139244
NM_001127715
c.G3241A
c.G3349A
p.D1081N
p.D1117N
17.868.252E-6Yuen2017 G
STXBP5     AU3779304chr6:
147790456-147790456
CTintergenicDe novo--Yuen2017 G
STXBP5     AU2777302chr6:
147683205-147683205
GAintronicDe novo--Yuen2017 G
STXBP5     2-1114-003chr6:
147775976-147775976
CAintergenicDe novo--Yuen2017 G
STXBP5     AU2129301chr6:
147708305-147708305
TGUTR3De novo--Yuen2017 G
STXBP5     04C25762chr6:
147684764-147684764
CTexonicUnknownnonsynonymous SNVNM_139244
NM_001127715
c.C2731T
c.C2839T
p.R911C
p.R947C
19.061.655E-5Stessman2017 T
STXBP5     AU060803chr6:
147588889-147588889
CTintronicDe novo--Yuen2017 G
STXBP5     M26811chr6:
147694910-147694910
CTexonicPaternalnonsynonymous SNVNM_139244
NM_001127715
c.C3017T
c.C3125T
p.A1006V
p.A1042V
34.08.245E-6Guo2018 T
Wang2016 T
STXBP5     2-1452-003chr6:
147737613-147737613
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
STXBP5     Cukier2014:37994chr6:
147635108-147635108
CGexonicUnknownnonsynonymous SNVNM_001127715
NM_139244
c.C1234G
c.C1234G
p.L412V
p.L412V
15.620.0034Cukier2014 E
STXBP5     Cukier2014:7623chr6:
147636753-147636753
AGexonicUnknownnonsynonymous SNVNM_001127715
NM_139244
c.A1505G
c.A1505G
p.Y502C
p.Y502C
16.240.0036Cukier2014 E
STXBP5     2-1345-003chr6:
147648225-147648225
TAintronicDe novo--Yuen2016 G
Yuen2017 G
STXBP5     AU1207301chr6:
147684764-147684764
CTexonicUnknownnonsynonymous SNVNM_139244
NM_001127715
c.C2731T
c.C2839T
p.R911C
p.R947C
19.061.655E-5Stessman2017 T
STXBP5     AU3702307chr6:
147784739-147784739
CTintergenicDe novo--Yuen2017 G
STXBP5     AU1933301chr6:
147565980-147565980
TGintronicDe novo--Yuen2017 G
STXBP5     AU1933301chr6:
147640014-147640014
CGintronicDe novo--Yuen2017 G
STXBP5     NDAR_INVGC149CAJ_wes1chr6:
147635412-147635412
AGexonicDe novononsynonymous SNVNM_001127715
NM_139244
c.A1306G
c.A1306G
p.N436D
p.N436D
19.88-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
STXBP5     AU075703chr6:
147666813-147666813
ACintronicDe novo--Yuen2017 G
STXBP5     DEASD_0042_002chr6:
147680342-147680343
TCTexonicDe novoframeshift deletionNM_139244
NM_001127715
c.2321delC
c.2429delC
p.S774fs
p.S810fs
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
STXBP5     U3V4Pchr6:
147680250-147680250
GAexonicInheritednonsynonymous SNVNM_139244
NM_001127715
c.G2228A
c.G2336A
p.R743Q
p.R779Q
36.08.286E-5Stessman2017 T
STXBP5     2-1486-003chr6:
147550882-147550882
CAintronicDe novo--Yuen2017 G
STXBP5     AU4479301chr6:
147544039-147544039
GCintronicDe 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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