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Results for "SIN3A"

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
SIN3A     08C77304chr15:
75688662-75688662		GAexonicInheritednonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.C2030T
c.C2030T
c.C2030T		p.A677V
p.A677V
p.A677V		36.0-Stessman2017 T
SIN3A     Lim2017:36926chr15:
75692422-75692422		AGexonicDe novononsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.T1813C
c.T1813C
c.T1813C		p.Y605H
p.Y605H
p.Y605H		29.2-Lim2017 E
SIN3A     220-9873-201chr15:
75693267-75693267		ATexonicInheritedstopgainNM_001145357
NM_001145358
NM_015477		c.T1541A
c.T1541A
c.T1541A		p.L514X
p.L514X
p.L514X		41.0-Stessman2017 T
SIN3A     A28chr15:
75663448-75663448		TCUTR3De novo--Wu2018 G
SIN3A     G01-GEA-213-HIchr15:
75687049-75687049		AAGTAAGAGexonicDe novoframeshift insertionNM_001145357
NM_001145358
NM_015477		c.2248_2249insCTCTTAC
c.2248_2249insCTCTTAC
c.2248_2249insCTCTTAC		p.L750fs
p.L750fs
p.L750fs		--Satterstrom2020 E
SIN3A     EGAN00001101080chr15:
75702622-75702626		CTCTTCexonicDe novoframeshift deletionNM_001145357
NM_001145358
NM_015477		c.1010_1013del
c.1010_1013del
c.1010_1013del		p.K337fs
p.K337fs
p.K337fs		--Fu2022 E
Satterstrom2020 E
SIN3A     7-0100-004chr15:
75756917-75756917		CGintergenicDe novo--Yuen2017 G
SIN3A     D9S5Ychr15:
75676661-75676661		CGexonicInheritednonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G3139C
c.G3139C
c.G3139C		p.E1047Q
p.E1047Q
p.E1047Q		35.0-Stessman2017 T
SIN3A     2-1398-003chr15:
75721433-75721433		TCintronicDe novo--Yuen2017 G
SIN3A     14579.p1chr15:
75692422-75692422		AGexonicDe novo, Unknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.T1813C
c.T1813C
c.T1813C		p.Y605H
p.Y605H
p.Y605H		29.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
SIN3A     SSC12333chr15:
75692422-75692422		AGexonicnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.T1813C
c.T1813C
c.T1813C		p.Y605H
p.Y605H
p.Y605H		29.2-Antaki2022 GE
SIN3A     AGRE_08C77304chr15:
75688662-75688662		GAexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.C2030T
c.C2030T
c.C2030T		p.A677V
p.A677V
p.A677V		36.0-Wang2020 T
SIN3A     SanDiego_D9S5Ychr15:
75676661-75676661		CGexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G3139C
c.G3139C
c.G3139C		p.E1047Q
p.E1047Q
p.E1047Q		35.0-Wang2020 T
SIN3A     TASC_220-9873-201chr15:
75693267-75693267		ATexonicUnknownstopgainNM_001145357
NM_001145358
NM_015477		c.T1541A
c.T1541A
c.T1541A		p.L514X
p.L514X
p.L514X		41.0-Wang2020 T
SIN3A     AU3786301chr15:
75730950-75730950		AGintronicDe novo--Yuen2017 G
SIN3A     M31006chr15:
75722622-75722622		CTexonicMaternalnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G95A
c.G95A
c.G95A		p.R32Q
p.R32Q
p.R32Q		36.08.262E-6Guo2018 T
SIN3A     Leuven2_67583377chr15:
75688689-75688689		GAexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.C2003T
c.C2003T
c.C2003T		p.A668V
p.A668V
p.A668V		36.0-Wang2020 T
SIN3A     Leuven_118152 Complex Event; expand row to view variants  Unknownframeshift deletionNM_001145357
NM_001145358
NM_015477
NM_001145357
NM_001145358
NM_015477		c.3698_3702del
c.3698_3702del
c.3698_3702del
c.3704_3707del
c.3704_3707del
c.3704_3707del		p.W1233fs
p.W1233fs
p.W1233fs
p.M1235fs
p.M1235fs
p.M1235fs		--Wang2020 T
Wang2020 T
SIN3A     AU3849303chr15:
75715548-75715548		GCintronicDe novo--Yuen2017 G
SIN3A     10C116530chr15:
75684849-75684849		GAexonicDe novo, Unknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.C2585T
c.C2585T
c.C2585T		p.P862L
p.P862L
p.P862L		17.448.237E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
SIN3A     AU052103chr15:
75687044-75687044		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G2254A
c.G2254A
c.G2254A		p.E752K
p.E752K
p.E752K		37.0-Stessman2017 T
SIN3A     SanDiego_00923-U9Z3Zchr15:
75676766-75676766		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G3034A
c.G3034A
c.G3034A		p.V1012M
p.V1012M
p.V1012M		27.3-Wang2020 T
SIN3A     SanDiego_00396-J8T5Nchr15:
75676766-75676766		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G3034A
c.G3034A
c.G3034A		p.V1012M
p.V1012M
p.V1012M		27.3-Wang2020 T
SIN3A     AU3760302chr15:
75706130-75706130		TCintronicDe novo--Yuen2017 G
SIN3A     13657.p1chr15:
75706487-75706487		CTintronicMosaic--Dou2017 E
SIN3A     SAGE_131.03chr15:
75694295-75694295		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G1424A
c.G1424A
c.G1424A		p.R475Q
p.R475Q
p.R475Q		29.3-Wang2020 T
SIN3A     Mahjani2021:73chr15:
75692383-75692383		CGexonicnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G1852C
c.G1852C
c.G1852C		p.E618Q
p.E618Q
p.E618Q		34.0-Mahjani2021 E
SIN3A     ACGC_SD0154.p1chr15:
75694229-75694229		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G1490A
c.G1490A
c.G1490A		p.R497H
p.R497H
p.R497H		33.0-Wang2020 T
SIN3A     AGRE_AU012305chr15:
75693151-75693151		GAexonicUnknownstopgainNM_001145357
NM_001145358
NM_015477		c.C1657T
c.C1657T
c.C1657T		p.R553X
p.R553X
p.R553X		40.0-Wang2020 T
SIN3A     ACGC_SD0336.p1chr15:
75687145-75687145		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G2153A
c.G2153A
c.G2153A		p.R718Q
p.R718Q
p.R718Q		36.0-Wang2020 T
SIN3A     ACGC_SD0335.p1chr15:
75687145-75687145		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G2153A
c.G2153A
c.G2153A		p.R718Q
p.R718Q
p.R718Q		36.0-Wang2020 T
SIN3A     AGRE_AU052103chr15:
75687044-75687044		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G2254A
c.G2254A
c.G2254A		p.E752K
p.E752K
p.E752K		37.0-Wang2020 T
SIN3A     ACGC_HN0309.p1chr15:
75682048-75682048		ATexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.T2966A
c.T2966A
c.T2966A		p.I989N
p.I989N
p.I989N		32.0-Wang2020 T
SIN3A     36926chr15:
75692422-75692422		AGexonicDe novononsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.T1813C
c.T1813C
c.T1813C		p.Y605H
p.Y605H
p.Y605H		29.2-Fu2022 E
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
Curation notesView
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