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Results for "SYT2"

Variant Events: 26

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
SYT2     12351.p1chr1:
202568427-202568427
CGexonicnonsynonymous SNVNM_001136504
NM_177402
c.G972C
c.G972C
p.K324N
p.K324N
32.0-Zhou2022 GE
SYT2     2-0135-004chr1:
202689710-202689710
TGintergenicDe novo--Yuen2017 G
SYT2     2-1318-004chr1:
202689710-202689710
TGintergenicDe novo--Yuen2017 G
SYT2     2-1422-003chr1:
202570509-202570509
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SYT2     1-0551-003chr1:
202689710-202689710
TGintergenicDe novo--Yuen2017 G
SYT2     AU065304chr1:
202577019-202577019
TAintronicDe novo--Trost2022 G
Yuen2017 G
SYT2     2-1715-003chr1:
202689710-202689710
TGintergenicDe novo--Yuen2017 G
SYT2     5-0084-003chr1:
202689710-202689710
TGintergenicDe novo--Yuen2017 G
SYT2     AU3911302chr1:
202593917-202593917
GAintronicDe novo--Trost2022 G
SYT2     REACH000443chr1:
202585127-202585127
CTintronicDe novo--Trost2022 G
SYT2     7-0419-003chr1:
202624651-202624651
CTintronicDe novo--Trost2022 G
SYT2     AU4410302chr1:
202593932-202593932
TGintronicDe novo--Trost2022 G
SYT2     1-0158-003chr1:
202689710-202689710
TGintergenicDe novo--Yuen2017 G
SYT2     7-0416-003chr1:
202675280-202675280
CGintronicDe novo--Trost2022 G
SYT2     4-0035-003chr1:
202660201-202660201
CAintronicDe novo--Trost2022 G
SYT2     2-0045-003chr1:
202589119-202589119
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SYT2     7-0461-003chr1:
202637349-202637349
CTintronicDe novo--Trost2022 G
SYT2     4-0100-003chr1:
202635003-202635003
CTintronicDe novo--Trost2022 G
SYT2     REACH000709chr1:
202659363-202659363
CTintronicDe novo--Trost2022 G
SYT2     1-0585-003chr1:
202577577-202577577
TAintronicDe novo--Yuen2017 G
SYT2     2-0139-003chr1:
202648044-202648044
CTintronicDe novo--Trost2022 G
SYT2     1-0559-004chr1:
202674409-202674409
CCGTAintronicDe novo--Trost2022 G
Yuen2017 G
SYT2     SSC04591chr1:
202568427-202568427
CGexonicnonsynonymous SNVNM_001136504
NM_177402
c.G972C
c.G972C
p.K324N
p.K324N
32.0-Antaki2022 GE
SYT2     AU2793301chr1:
202633083-202633083
AGintronicDe novo--Trost2022 G
Yuen2017 G
SYT2     2-1487-003chr1:
202609912-202609929
GAGAGAGAGACAGACAGAGAGAintronicDe novo--Yuen2017 G
SYT2     1-0161-004chr1:
202689698-202689698
TCintergenicDe 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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