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Results for "SYNE2"

Variant Events: 15

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
SYNE2     2-1506-003chr14:
64514744-64514744
AGexonicDe novosynonymous SNVNM_015180
NM_182914
c.A7248G
c.A7248G
p.S2416S
p.S2416S
--Yuen2017 G
SYNE2     09C86700chr14:
64532269-64532269
GAexonicDe novosynonymous SNVNM_015180
NM_182914
c.G10332A
c.G10332A
p.S3444S
p.S3444S
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
SYNE2     2-0270-004chr14:
64364495-64364495
CTintronicDe novo--Yuen2017 G
SYNE2     3G090chr14:
64634259-64634259
GGAexonicDe novoframeshift insertionNM_015180
NM_182914
c.16808dupA
c.16808dupA
p.E5603fs
p.E5603fs
--Satterstrom2020 E
SYNE2     1-0296-004chr14:
64421458-64421458
CTexonicDe novosynonymous SNVNM_015180
NM_182914
c.C612T
c.C612T
p.T204T
p.T204T
--Yuen2017 G
SYNE2     iHART2352chr14:
64416725-64416725
GAsplicingMaternalsplicing22.68.281E-6Ruzzo2019 G
SYNE2     iHART2355chr14:
64416725-64416725
GAsplicingMaternalsplicing22.68.281E-6Ruzzo2019 G
SYNE2     1-0508-003chr14:
64470045-64470045
AGexonicDe novononsynonymous SNVNM_015180
NM_182914
c.A4394G
c.A4394G
p.H1465R
p.H1465R
5.9645.079E-5Yuen2017 G
SYNE2     1-0706-003chr14:
64336847-64336847
CTintronicDe novo--Yuen2017 G
SYNE2     iHART2383chr14:
64691211-64691213
GGTGexonicMaternalframeshift deletionNM_182910
NM_182913
NM_015180
NM_182914
c.982_983del
c.1360_1361del
c.20347_20348del
c.20416_20417del
p.V328fs
p.V454fs
p.V6783fs
p.V6806fs
--Ruzzo2019 G
SYNE2     iHART2382chr14:
64691211-64691213
GGTGexonicMaternalframeshift deletionNM_182910
NM_182913
NM_015180
NM_182914
c.982_983del
c.1360_1361del
c.20347_20348del
c.20416_20417del
p.V328fs
p.V454fs
p.V6783fs
p.V6806fs
--Ruzzo2019 G
SYNE2     Cukier2014:37994chr14:
64676751-64676751
CTexonicUnknownnonsynonymous SNVNM_015180
NM_182914
c.C18632T
c.C18632T
p.T6211M
p.T6211M
12.090.0051Cukier2014 E
SYNE2     2-1605-003chr14:
64334365-64334365
GAintronicDe novo--Yuen2017 G
SYNE2     AU0039303chr14:
64430653-64430653
CAexonicDe novononsynonymous SNVNM_015180
NM_182914
c.C925A
c.C925A
p.Q309K
p.Q309K
9.846-Yuen2017 G
SYNE2     G01-GEA-90-HIchr14:
64469674-64469674
CTexonicDe novosynonymous SNVNM_015180
NM_182914
c.C4023T
c.C4023T
p.P1341P
p.P1341P
-1.659E-5Satterstrom2020 E
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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