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Results for "SYT1"

Variant Events: 49

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     AU3716302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
SYT1     AU006804chr12:
79739911-79739911
TAintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     DEASD_1094_001chr12:
79685662-79685666
GACAAGintronicDe novo-6.81E-5Satterstrom2020 E
Trost2022 G
SYT1     2-0197-004chr12:
79592297-79592297
AATTTTATTTGATACintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     2-0299-003chr12:
79375666-79375666
CAintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     2-0102-004chr12:
79279484-79279484
GTintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     AU036203chr12:
79794777-79794777
AGintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     A26chr12:
79744868-79744868
GCintronicDe novo--Wu2018 G
SYT1     MSSNG00413-003chr12:
79341720-79341720
CTintronicDe novo--Trost2022 G
SYT1     MSSNG00109-005chr12:
79370622-79370622
GAintronicDe novo--Trost2022 G
SYT1     2-1275-003chr12:
79743890-79743903
TAAGCCACAAACACTintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     1-0262-004Achr12:
79265281-79265281
AGintronicDe novo--Trost2022 G
SYT1     AU2817301chr12:
79499577-79499577
AGintronicDe novo--Trost2022 G
SYT1     9-0010-003chr12:
79509717-79509717
CTintronicDe novo--Trost2022 G
SYT1     SP0095731chr12:
79747315-79747315
CTexonicDe novononsynonymous SNVNM_001135806
NM_001291901
NM_005639
NM_001135805
c.C844T
c.C835T
c.C844T
c.C844T
p.R282C
p.R279C
p.R282C
p.R282C
15.32-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SYT1     MSSNG00387-003chr12:
79454366-79454366
TCintronicDe novo--Trost2022 G
SYT1     AU004403chr12:
79492618-79492618
TGintronicDe novo--Trost2022 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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SYT1     74-0355chr12:
79552075-79552075
CAintronicInherited--Michaelson2012 G
SYT1     AU4199303chr12:
79619433-79619433
CAintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     7-0395-003chr12:
79407629-79407629
CTintronicDe novo--Trost2022 G
SYT1     7-0309-004chr12:
79413800-79413800
AGintronicDe novo--Trost2022 G
SYT1     10-1155-004chr12:
79400687-79400687
GAintronicDe novo--Trost2022 G
SYT1     AU2463301chr12:
79405638-79405641
ATGGAintronicDe novo--Trost2022 G
SYT1     3-0829-000chr12:
79667857-79667857
CTintronicDe novo--Trost2022 G
SYT1     SJD_61.3chr12:
79692784-79692784
CAintronicDe novo--Trost2022 G
SYT1     SJD_58.4chr12:
79657857-79657857
GCintronicDe novo--Trost2022 G
SYT1     7-0387-003chr12:
79659635-79659635
TCintronicDe novo--Trost2022 G
SYT1     1-1224-003chr12:
79656818-79656818
CTintronicDe novo--Trost2022 G
SYT1     SP0010792chr12:
79842729-79842729
AGexonicDe novononsynonymous SNVNM_001135806
NM_001291901
NM_005639
NM_001135805
c.A1094G
c.A1085G
c.A1094G
c.A1094G
p.Y365C
p.Y362C
p.Y365C
p.Y365C
17.41-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SYT1     SP0033047chr12:
79611309-79611309
GAexonicDe novononsynonymous SNVNM_001135806
NM_001291901
NM_005639
NM_001135805
c.G10A
c.G10A
c.G10A
c.G10A
p.E4K
p.E4K
p.E4K
p.E4K
12.488.486E-6Fu2022 E
Trost2022 G
Zhou2022 GE
SYT1     3-0029-000chr12:
79657283-79657283
TCintronicDe novo--Trost2022 G
SYT1     MT_151.3chr12:
79534091-79534091
GAintronicDe novo--Trost2022 G
SYT1     7-0462-004chr12:
79609954-79609954
GAintronicDe novo--Trost2022 G
SYT1     3-0143-001chr12:
79828870-79828870
TAintronicDe novo--Trost2022 G
SYT1     3-0143-001chr12:
79828897-79828897
GAintronicDe novo--Trost2022 G
SYT1     D4S2Z-01chr12:
79805625-79805625
CCTintronicDe novo--Trost2022 G
SYT1     2-1781-003chr12:
79808397-79808397
GAintronicDe novo--Trost2022 G
SYT1     1-0945-003chr12:
79749378-79749378
AGintronicDe novo--Trost2022 G
SYT1     1031chr12:
79764880-79764880
TAintronicDe novo--Trost2022 G
SYT1     7-0171-003chr12:
79314132-79314132
AGintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     5-5170-003chr12:
79699563-79699563
GAintronicDe novo--Trost2022 G
SYT1     MT_67.3chr12:
79742323-79742323
GAintronicDe novo--Trost2022 G
SYT1     1-1112-003chr12:
79832758-79832758
AGintronicDe novo--Trost2022 G
SYT1     SJD_50.4chr12:
79846758-79846758
CGdownstreamDe novo--Trost2022 G
SYT1     1-0405-003chr12:
79765303-79765303
CGintronicDe novo--Trost2022 G
Yuen2017 G
SYT1     1-0556-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
SYT1     AU4168306 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
SYT1     AU2569301chr12:
79545390-79545390
GCintronicDe 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
Curation notesView
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