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Results for "SYT1"

Variant Events: 17

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
SYT1     2-0299-003chr12:
79375666-79375666
CAintronicDe novo--Yuen2017 G
SYT1     AU3716302chr12:
79453179-79453194
TATTTTAATTTTAATTTATTTTAATTintronicDe novo--Yuen2017 G
SYT1     1-0405-003chr12:
79765303-79765303
CGintronicDe novo--Yuen2017 G
SYT1     2-0102-004chr12:
79279484-79279484
GTintronicDe novo--Yuen2017 G
SYT1     1-0556-003chr12:
79787335-79787344
GTGATGATGAGTGATGAintronicDe novo--Yuen2017 G
SYT1     7-0171-003chr12:
79314132-79314132
AGintronicDe novo--Yuen2017 G
SYT1     AU036203chr12:
79794777-79794777
AGintronicDe novo--Yuen2017 G
SYT1     AU4168306chr12:
79425563-79425567
CTTTTCTTTintronicDe novo--Yuen2017 G
SYT1     A26chr12:
79744868-79744868
GCintronicDe novo--Wu2018 G
SYT1     AU006804chr12:
79739911-79739911
TAintronicDe novo--Yuen2017 G
SYT1     DEASD_1094_001chr12:
79685662-79685666
GACAAGintronicDe novo-6.81E-5Satterstrom2020 E
SYT1     2-1275-003chr12:
79743890-79743903
TAAGCCACAAACACTintronicDe novo--Yuen2017 G
SYT1     AU2569301chr12:
79545390-79545390
GCintronicDe novo--Yuen2017 G
SYT1     ASDFI_1049chr12:
79689961-79689961
CGexonicDe novononsynonymous SNVNM_001135806
NM_001291901
NM_005639
NM_001135805
c.C587G
c.C578G
c.C587G
c.C587G
p.T196R
p.T193R
p.T196R
p.T196R
26.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SYT1     74-0355chr12:
79552075-79552075
CAintronicInherited--Michaelson2012 G
SYT1     AU4199303chr12:
79619433-79619433
CAintronicDe novo--Yuen2017 G
SYT1     2-0197-004chr12:
79592297-79592297
AATTTTATTTGATACintronicDe 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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