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Results for "SYNE3"

Variant Events: 28

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
SYNE3     2-1429-004chr14:
95886251-95886251
GAintronicDe novo--Yuen2017 G
SYNE3     7-0438-003chr14:
95895950-95895950
CTintronicDe novo--Trost2022 G
SYNE3     SP0119297chr14:
95923453-95923453
ACintronicDe novo--Trost2022 G
SYNE3     SP0101527chr14:
95923455-95923455
ACintronicDe novo--Trost2022 G
SYNE3     mAGRE4444chr14:
95921815-95921815
CAexonicMaternalstopgainNM_152592c.G1036Tp.E346X37.08.348E-6Cirnigliaro2023 G
SYNE3     SP0047988chr14:
95932399-95932399
GTexonicDe novononsynonymous SNVNM_152592c.C496Ap.Q166K17.83-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE3     SP0181224chr14:
95918683-95918684
ACAexonicDe novoframeshift deletionNM_152592c.1174delGp.V392fs--Trost2022 G
SYNE3     mAGRE4443chr14:
95921815-95921815
CAexonicMaternalstopgainNM_152592c.G1036Tp.E346X37.08.348E-6Cirnigliaro2023 G
SYNE3     SP0101527chr14:
95923453-95923453
ACintronicDe novo--Trost2022 G
SYNE3     MSSNG00383-003chr14:
95899996-95899997
CACintronicDe novo--Trost2022 G
SYNE3     MT_179.3chr14:
95916529-95916529
GAintronicDe novo--Trost2022 G
SYNE3     AU1988301chr14:
95896347-95896347
GAintronicDe novo--Trost2022 G
SYNE3     AU1988301chr14:
95896351-95896351
GAintronicDe novo--Trost2022 G
SYNE3     366-09-111835chr14:
95983585-95983585
GAintergenicDe novo6.582-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SYNE3     SP0118912chr14:
95916345-95916345
GAexonicDe novosynonymous SNVNM_152592c.C1372Tp.L458L--Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE3     1-0670-003chr14:
95929282-95929282
CAintronicDe novo--Trost2022 G
SYNE3     SP0085275chr14:
95922049-95922049
CAexonicDe novononsynonymous SNVNM_152592c.G802Tp.D268Y10.89-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE3     SP0054520chr14:
95932265-95932265
CTintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE3     SP0119297chr14:
95923455-95923455
ACintronicDe novo--Trost2022 G
SYNE3     2-1486-003chr14:
95948001-95948001
GTintergenicDe novo--Yuen2017 G
SYNE3     SP0092269chr14:
95918685-95918685
CTexonicDe novosynonymous SNVNM_152592c.G1173Ap.R391R--Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE3     SP0126058 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
SYNE3     7-0059-003chr14:
95985817-95985817
GAintergenicDe novo--Yuen2017 G
SYNE3     74-0115chr14:
95954490-95954490
ACintergenicDe novo--Michaelson2012 G
SYNE3     2-0223-003chr14:
95886214-95886214
TTGGTAAGintronicDe novo--Yuen2017 G
SYNE3     2-1342-003chr14:
95921033-95921033
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SYNE3     AU0638302chr14:
95946009-95946009
CTintergenicDe novo--Yuen2017 G
SYNE3     BRK-24-01chr14:
95906379-95906379
CTexonicDe novononsynonymous SNVNM_152592c.G1945Ap.E649K20.3-Abdi2023 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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