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Results for "SYNE2"

Variant Events: 34

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     13548.p1chr14:
64470048-64470048		GAexonicnonsynonymous SNVNM_015180
NM_182914		c.G4397A
c.G4397A		p.R1466Q
p.R1466Q		14.38-Zhou2022 GE
SYNE2     AU059003chr14:
64606705-64606705		CTexonicDe novostopgainNM_015180
NM_182914		c.C14890T
c.C14890T		p.Q4964X
p.Q4964X		55.0-Trost2022 G
SYNE2     2-0270-004chr14:
64364495-64364495		CTintronicDe novo--Trost2022 G
Yuen2017 G
SYNE2     3G090chr14:
64634259-64634259		GGAexonicDe novoframeshift insertionNM_015180
NM_182914		c.16808dupA
c.16808dupA		p.E5603fs
p.E5603fs		--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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-5Trost2022 G
Yuen2017 G
Zhou2022 GE
SYNE2     1-0706-003chr14:
64336847-64336847		CTintronicDe novo--Trost2022 G
Yuen2017 G
SYNE2     SP0036774chr14:
64686037-64686037		TCexonicDe novononsynonymous SNVNM_182910
NM_182913
NM_015180
NM_182914		c.T293C
c.T671C
c.T19700C
c.T19769C		p.L98P
p.L224P
p.L6567P
p.L6590P		14.94-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE2     SP0137304chr14:
64630183-64630183		CTexonicDe novostopgainNM_015180
NM_182914		c.C16363T
c.C16363T		p.R5455X
p.R5455X		20.82.472E-5Fu2022 E
Trost2022 G
Zhou2022 GE
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     SP0011117chr14:
64416756-64416756		AGintronicDe novo--Fu2022 E
SYNE2     SP0046838chr14:
64688271-64688271		GTexonicDe novononsynonymous SNVNM_182910
NM_182913		c.G605T
c.G983T		p.R202L
p.R328L		11.791.647E-5Fu2022 E
Zhou2022 GE
SYNE2     SP0062662chr14:
64483287-64483287		AGexonicDe novononsynonymous SNVNM_015180
NM_182914		c.A4825G
c.A4825G		p.K1609E
p.K1609E		16.08-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE2     SP0087886chr14:
64469691-64469691		CAexonicDe novononsynonymous SNVNM_015180
NM_182914		c.C4040A
c.C4040A		p.A1347D
p.A1347D		10.35-Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE2     2-1605-003chr14:
64334365-64334365		GAintronicDe novo--Trost2022 G
Yuen2017 G
SYNE2     SP0022370chr14:
64520090-64520090		TCexonicDe novosynonymous SNVNM_015180
NM_182914		c.T9459C
c.T9459C		p.N3153N
p.N3153N		--Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE2     G01-GEA-90-HIchr14:
64469674-64469674		CTexonicDe novosynonymous SNVNM_015180
NM_182914		c.C4023T
c.C4023T		p.P1341P
p.P1341P		-1.659E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SYNE2     SP0042795chr14:
64467345-64467345		TCexonicDe novosynonymous SNVNM_015180
NM_182914		c.T3546C
c.T3546C		p.N1182N
p.N1182N		--Fu2022 E
Trost2022 G
Zhou2022 GE
SYNE2     2-1506-003chr14:
64514744-64514744		AGexonicDe novosynonymous SNVNM_015180
NM_182914		c.A7248G
c.A7248G		p.S2416S
p.S2416S		--Trost2022 G
Yuen2017 G
Zhou2022 GE
SYNE2     09C86700chr14:
64532269-64532269		GAexonicDe novosynonymous SNVNM_015180
NM_182914		c.G10332A
c.G10332A		p.S3444S
p.S3444S		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SYNE2     mAGRE2383chr14:
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		--Cirnigliaro2023 G
SYNE2     mAGRE2382chr14:
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		--Cirnigliaro2023 G
SYNE2     mAGRE2355chr14:
64416725-64416725		GAsplicingMaternalsplicing22.68.281E-6Cirnigliaro2023 G
SYNE2     mAGRE2352chr14:
64416725-64416725		GAsplicingMaternalsplicing22.68.281E-6Cirnigliaro2023 G
SYNE2     1-0296-004chr14:
64421458-64421458		CTexonicDe novosynonymous SNVNM_015180
NM_182914		c.C612T
c.C612T		p.T204T
p.T204T		--Trost2022 G
Yuen2017 G
Zhou2022 GE
SYNE2     Cukier2014:37994chr14:
64676751-64676751		CTexonicUnknownnonsynonymous SNVNM_015180
NM_182914		c.C18632T
c.C18632T		p.T6211M
p.T6211M		12.090.0051Cukier2014 E
SYNE2     AU3885305chr14:
64356916-64356916		GAintronicDe novo--Trost2022 G
SYNE2     MSSNG00394-003chr14:
64344491-64344493		CTGCintronicDe novo--Trost2022 G
SYNE2     REACH000323chr14:
64346031-64346031		CGintronicDe novo--Trost2022 G
SYNE2     AU0039303chr14:
64430653-64430653		CAexonicDe novononsynonymous SNVNM_015180
NM_182914		c.C925A
c.C925A		p.Q309K
p.Q309K		9.846-Trost2022 G
Yuen2017 G
Zhou2022 GE
SYNE2     AU2320301chr14:
64332884-64332884		AGintronicDe novo--Trost2022 G
SYNE2     1-0090-003chr14:
64334364-64334364		CTintronicDe novo--Trost2022 G
Source Variant Information

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Source:

Paper alias:

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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
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