Variant Results

or

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

08C77304

chr15:
75688662-75688662

G

A

exonic

Inherited

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.C2030T
c.C2030T
c.C2030T

p.A677V
p.A677V
p.A677V

36.0

-

Stessman2017 T

SIN3A

Lim2017:36926

chr15:
75692422-75692422

A

G

exonic

De novo

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.T1813C
c.T1813C
c.T1813C

p.Y605H
p.Y605H
p.Y605H

29.2

-

Lim2017 E

SIN3A

220-9873-201

chr15:
75693267-75693267

A

T

exonic

Inherited

stopgain

NM_001145357
NM_001145358
NM_015477

c.T1541A
c.T1541A
c.T1541A

p.L514X
p.L514X
p.L514X

41.0

-

Stessman2017 T

SIN3A

A28

chr15:
75663448-75663448

T

C

UTR3

De novo

-

Wu2018 G

SIN3A

G01-GEA-213-HI

chr15:
75687049-75687049

A

AGTAAGAG

exonic

De novo

frameshift insertion

NM_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

EGAN00001101080

chr15:
75702622-75702626

CTCTT

C

exonic

De novo

frameshift deletion

NM_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

7-0100-004

chr15:
75756917-75756917

C

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SIN3A

D9S5Y

chr15:
75676661-75676661

C

G

exonic

Inherited

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G3139C
c.G3139C
c.G3139C

p.E1047Q
p.E1047Q
p.E1047Q

35.0

-

Stessman2017 T

SIN3A

2-1398-003

chr15:
75721433-75721433

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SIN3A

14579.p1

chr15:
75692422-75692422

A

G

exonic

Unknown, De novo

nonsynonymous SNV

NM_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

SSC12333

chr15:
75692422-75692422

A

G

exonic

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.T1813C
c.T1813C
c.T1813C

p.Y605H
p.Y605H
p.Y605H

29.2

-

Antaki2022 GE

SIN3A

AGRE_08C77304

chr15:
75688662-75688662

G

A

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.C2030T
c.C2030T
c.C2030T

p.A677V
p.A677V
p.A677V

36.0

-

Wang2020 T

SIN3A

C9C2C_01

chr15:
75679724-75679724

G

A

intronic

De novo

-

Trost2022 G

SIN3A

SanDiego_D9S5Y

chr15:
75676661-75676661

C

G

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G3139C
c.G3139C
c.G3139C

p.E1047Q
p.E1047Q
p.E1047Q

35.0

-

Wang2020 T

SIN3A

REACH000293

chr15:
75682356-75682356

G

C

intronic

De novo

-

Trost2022 G

SIN3A

MSSNG00046-004

chr15:
75662948-75662948

A

G

UTR3

De novo

-

Trost2022 G

SIN3A

TASC_220-9873-201

chr15:
75693267-75693267

A

T

exonic

Unknown

stopgain

NM_001145357
NM_001145358
NM_015477

c.T1541A
c.T1541A
c.T1541A

p.L514X
p.L514X
p.L514X

41.0

-

Wang2020 T

SIN3A

3-0548-000

chr15:
75672465-75672465

G

A

intronic

De novo

-

Trost2022 G

SIN3A

AU3786301

chr15:
75730950-75730950

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SIN3A

M31006

chr15:
75722622-75722622

C

T

exonic

Maternal

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G95A
c.G95A
c.G95A

p.R32Q
p.R32Q
p.R32Q

36.0

8.262E-6

Guo2018 T

SIN3A

Leuven2_67583377

chr15:
75688689-75688689

G

A

exonic

Unknown

nonsynonymous SNV

NM_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

Unknown

frameshift deletion

NM_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

5-1042-003

chr15:
75742902-75742902

T

C

intronic

De novo

-

Trost2022 G

SIN3A

AU3849303

chr15:
75715548-75715548

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SIN3A

MSSNG00356-003

chr15:
75738146-75738146

A

G

intronic

De novo

-

Trost2022 G

SIN3A

2-1504-003

chr15:
75738583-75738583

A

G

intronic

De novo

-

Trost2022 G

SIN3A

SP0159982

chr15:
75702309-75702309

C

T

exonic

De novo

synonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G1185A
c.G1185A
c.G1185A

p.E395E
p.E395E
p.E395E

-

Trost2022 G

SIN3A

MSSNG00018-004

chr15:
75720291-75720291

G

A

intronic

De novo

-

Trost2022 G

SIN3A

5-5022-003

chr15:
75694208-75694208

A

T

exonic

De novo

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.T1511A
c.T1511A
c.T1511A

p.V504D
p.V504D
p.V504D

25.3

-

Trost2022 G
Zhou2022 GE

SIN3A

3-0143-001

chr15:
75687295-75687295

G

C

intronic

De novo

-

Trost2022 G

SIN3A

10C116530

chr15:
75684849-75684849

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.C2585T
c.C2585T
c.C2585T

p.P862L
p.P862L
p.P862L

17.44

8.237E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

SIN3A

1-1159-004

chr15:
75701783-75701783

T

C

intronic

De novo

-

Trost2022 G

SIN3A

AU052103

chr15:
75687044-75687044

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G2254A
c.G2254A
c.G2254A

p.E752K
p.E752K
p.E752K

37.0

-

Stessman2017 T

SIN3A

SanDiego_00923-U9Z3Z

chr15:
75676766-75676766

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G3034A
c.G3034A
c.G3034A

p.V1012M
p.V1012M
p.V1012M

27.3

-

Wang2020 T

SIN3A

SanDiego_00396-J8T5N

chr15:
75676766-75676766

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G3034A
c.G3034A
c.G3034A

p.V1012M
p.V1012M
p.V1012M

27.3

-

Wang2020 T

SIN3A

AU3760302

chr15:
75706130-75706130

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SIN3A

13657.p1

chr15:
75706487-75706487

C

T

intronic

Mosaic

-

Dou2017 E

SIN3A

SAGE_131.03

chr15:
75694295-75694295

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G1424A
c.G1424A
c.G1424A

p.R475Q
p.R475Q
p.R475Q

29.3

-

Wang2020 T

SIN3A

Mahjani2021:73

chr15:
75692383-75692383

C

G

exonic

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G1852C
c.G1852C
c.G1852C

p.E618Q
p.E618Q
p.E618Q

34.0

-

Mahjani2021 E

SIN3A

ACGC_SD0154.p1

chr15:
75694229-75694229

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G1490A
c.G1490A
c.G1490A

p.R497H
p.R497H
p.R497H

33.0

-

Wang2020 T

SIN3A

AGRE_AU012305

chr15:
75693151-75693151

G

A

exonic

Unknown

stopgain

NM_001145357
NM_001145358
NM_015477

c.C1657T
c.C1657T
c.C1657T

p.R553X
p.R553X
p.R553X

40.0

-

Wang2020 T

SIN3A

ACGC_SD0336.p1

chr15:
75687145-75687145

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G2153A
c.G2153A
c.G2153A

p.R718Q
p.R718Q
p.R718Q

36.0

-

Wang2020 T

SIN3A

ACGC_SD0335.p1

chr15:
75687145-75687145

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G2153A
c.G2153A
c.G2153A

p.R718Q
p.R718Q
p.R718Q

36.0

-

Wang2020 T

SIN3A

AGRE_AU052103

chr15:
75687044-75687044

C

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.G2254A
c.G2254A
c.G2254A

p.E752K
p.E752K
p.E752K

37.0

-

Wang2020 T

SIN3A

ACGC_HN0309.p1

chr15:
75682048-75682048

A

T

exonic

Unknown

nonsynonymous SNV

NM_001145357
NM_001145358
NM_015477

c.T2966A
c.T2966A
c.T2966A

p.I989N
p.I989N
p.I989N

32.0

-

Wang2020 T

SIN3A

36926

chr15:
75692422-75692422

A

G

exonic

De novo

nonsynonymous SNV

NM_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

, -

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 notes	View
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