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Results for "SIN3A"

Variant Events: 29

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
GAexonicInherited, Unknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477
c.C2030T
c.C2030T
c.C2030T
p.A677V
p.A677V
p.A677V
36.0-Stessman2017 T
Wang2020 T
Wang2020 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
ATexonicInherited, UnknownstopgainNM_001145357
NM_001145358
NM_015477
c.T1541A
c.T1541A
c.T1541A
p.L514X
p.L514X
p.L514X
41.0-Stessman2017 T
Wang2020 T
Wang2020 T
SIN3A     A28chr15:
75663448-75663448
TCUTR3De novo--Wu2018 G
SIN3A     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
Wang2020 T
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
--Satterstrom2020 E
SIN3A     7-0100-004chr15:
75756917-75756917
CGintergenicDe novo--Yuen2017 G
SIN3A     D9S5Ychr15:
75676661-75676661
CGexonicInherited, Unknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477
c.G3139C
c.G3139C
c.G3139C
p.E1047Q
p.E1047Q
p.E1047Q
35.0-Stessman2017 T
Wang2020 T
Wang2020 T
SIN3A     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
Wang2020 T
Wang2020 T
SIN3A     2-1398-003chr15:
75721433-75721433
TCintronicDe novo--Yuen2017 G
SIN3A     14579.p1chr15:
75692422-75692422
AGexonicDe novononsynonymous 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     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
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     AU3849303chr15:
75715548-75715548
GCintronicDe novo--Yuen2017 G
SIN3A     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
Wang2020 T
SIN3A     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
Wang2020 T
Wang2020 T
SIN3A     10C116530chr15:
75684849-75684849
GAexonicDe novononsynonymous SNVNM_001145357
NM_001145358
NM_015477
c.C2585T
c.C2585T
c.C2585T
p.P862L
p.P862L
p.P862L
17.448.237E-6DeRubeis2014 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
Wang2020 T
Wang2020 T
SIN3A     AU3760302chr15:
75706130-75706130
TCintronicDe novo--Yuen2017 G
SIN3A     13657.p1chr15:
75706487-75706487
CTintronicMosaic--Dou2017 E
SIN3A     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
Wang2020 T
SIN3A     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
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     3072-12Dchr15:
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     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
Wang2020 T
SIN3A     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
Wang2020 T
SIN3A     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
Wang2020 T
Wang2020 T
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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