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Results for "SIN3A"

Variant Events: 46

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
Trost2022 G
Zhou2022 GE
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
Trost2022 G
Zhou2022 GE
SIN3A     7-0100-004chr15:
75756917-75756917
CGintergenicDe novo--Trost2022 G
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--Trost2022 G
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
Zhou2022 GE
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     C9C2C_01chr15:
75679724-75679724
GAintronicDe novo--Trost2022 G
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     REACH000293chr15:
75682356-75682356
GCintronicDe novo--Trost2022 G
SIN3A     MSSNG00046-004chr15:
75662948-75662948
AGUTR3De novo--Trost2022 G
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     3-0548-000chr15:
75672465-75672465
GAintronicDe novo--Trost2022 G
SIN3A     AU3786301chr15:
75730950-75730950
AGintronicDe novo--Trost2022 G
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     5-1042-003chr15:
75742902-75742902
TCintronicDe novo--Trost2022 G
SIN3A     AU3849303chr15:
75715548-75715548
GCintronicDe novo--Trost2022 G
Yuen2017 G
SIN3A     MSSNG00356-003chr15:
75738146-75738146
AGintronicDe novo--Trost2022 G
SIN3A     2-1504-003chr15:
75738583-75738583
AGintronicDe novo--Trost2022 G
SIN3A     SP0159982chr15:
75702309-75702309
CTexonicDe novosynonymous SNVNM_001145357
NM_001145358
NM_015477
c.G1185A
c.G1185A
c.G1185A
p.E395E
p.E395E
p.E395E
--Trost2022 G
SIN3A     MSSNG00018-004chr15:
75720291-75720291
GAintronicDe novo--Trost2022 G
SIN3A     5-5022-003chr15:
75694208-75694208
ATexonicDe novononsynonymous SNVNM_001145357
NM_001145358
NM_015477
c.T1511A
c.T1511A
c.T1511A
p.V504D
p.V504D
p.V504D
25.3-Trost2022 G
Zhou2022 GE
SIN3A     3-0143-001chr15:
75687295-75687295
GCintronicDe novo--Trost2022 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
Trost2022 G
Wang2020 T
Zhou2022 GE
SIN3A     1-1159-004chr15:
75701783-75701783
TCintronicDe novo--Trost2022 G
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--Trost2022 G
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
Trost2022 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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