Variant Results

or

Results for "SIN3B"

Variant Events: 25

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

SIN3B

PN400231

chr19:
16980392-16980392

G

A

exonic

Unknown

nonsynonymous SNV

NM_001297597
NM_001297595
NM_015260

c.G698A
c.G1928A
c.G2024A

p.R233Q
p.R643Q
p.R675Q

32.0

8.425E-6

Leblond2019 E

SIN3B

2-1168-003

chr19:
16948521-16948521

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SIN3B

PN400230

chr19:
16980392-16980392

G

A

exonic

Unknown

nonsynonymous SNV

NM_001297597
NM_001297595
NM_015260

c.G698A
c.G1928A
c.G2024A

p.R233Q
p.R643Q
p.R675Q

32.0

8.425E-6

Leblond2019 E

SIN3B

SP0047177

chr19:
16957953-16957953

C

T

intronic

De novo

-

4.0E-4

Fu2022 E

SIN3B

13946.p1

chr19:
16948599-16948599

A

G

intronic

De novo

-

Turner2016 G

SIN3B

11485.p1

chr19:
16973723-16973723

C

T

exonic

De novo

nonsynonymous SNV

NM_015260

c.C1295T

p.S432L

3.258

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SIN3B

08C74148

chr19:
16952772-16952772

C

T

exonic

De novo

nonsynonymous SNV

NM_001297595
NM_015260

c.C575T
c.C575T

p.T192M
p.T192M

21.2

8.383E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SIN3B

AU3122301

chr19:
16958188-16958188

C

G

intronic

De novo

-

Yuen2017 G

SIN3B

AU3122301

chr19:
16965914-16965914

C

T

intronic

De novo

-

Yuen2017 G

SIN3B

iHART2496

chr19:
16973705-16973705

G

A

exonic

Maternal

stopgain

NM_015260

c.G1277A

p.W426X

31.0

5.0E-4

Ruzzo2019 G

SIN3B

mAGRE5681

chr19:
16973705-16973705

G

A

exonic

Maternal

stopgain

NM_015260

c.G1277A

p.W426X

31.0

5.0E-4

Cirnigliaro2023 G

SIN3B

SP0213197

chr19:
16989521-16989521

C

T

exonic

De novo

nonsynonymous SNV

NM_001297597
NM_001297595
NM_015260

c.C2146T
c.C3376T
c.C3472T

p.R716C
p.R1126C
p.R1158C

16.56

6.964E-5

Trost2022 G

SIN3B

mAGRE4627

chr19:
16973705-16973705

G

A

exonic

Paternal

stopgain

NM_015260

c.G1277A

p.W426X

31.0

5.0E-4

Cirnigliaro2023 G

SIN3B

mAGRE2496

chr19:
16973705-16973705

G

A

exonic

Maternal

stopgain

NM_015260

c.G1277A

p.W426X

31.0

5.0E-4

Cirnigliaro2023 G

SIN3B

SP0233379

chr19:
16974569-16974569

G

A

exonic

De novo

nonsynonymous SNV

NM_001297597
NM_001297595
NM_015260

c.G115A
c.G1345A
c.G1441A

p.E39K
p.E449K
p.E481K

20.1

8.242E-6

Trost2022 G

SIN3B

PN400232

chr19:
16980392-16980392

G

A

exonic

Unknown

nonsynonymous SNV

NM_001297597
NM_001297595
NM_015260

c.G698A
c.G1928A
c.G2024A

p.R233Q
p.R643Q
p.R675Q

32.0

8.425E-6

Leblond2019 E

SIN3B

MSSNG00208-003

chr19:
16984467-16984467

C

G

intronic

De novo

-

Trost2022 G

SIN3B

SP0242032

chr19:
16940584-16940584

C

G

intronic

De novo

-

Trost2022 G

SIN3B

7-0059-003

chr19:
16959608-16959608

G

A

intronic

De novo

-

Trost2022 G

SIN3B

Krgovic2022:027720

chr19:
16977308-16977308

G

A

exonic

De novo

nonsynonymous SNV

NM_001297597
NM_001297595
NM_015260

c.G517A
c.G1747A
c.G1843A

p.D173N
p.D583N
p.D615N

34.0

-

Krgovic2022 E

SIN3B

1-0126-003

chr19:
16946150-16946150

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SIN3B

Lim2017:68592

chr19:
16973723-16973723

C

T

exonic

De novo

nonsynonymous SNV

NM_015260

c.C1295T

p.S432L

3.258

-

Lim2017 E

SIN3B

68592

chr19:
16973723-16973723

C

T

exonic

De novo

nonsynonymous SNV

NM_015260

c.C1295T

p.S432L

3.258

-

Fu2022 E
Trost2022 G

SIN3B

08C75407

chr19:
16982087-16982087

C

T

exonic

De novo

nonsynonymous SNV

NM_001297597
NM_001297595
NM_015260

c.C1240T
c.C2470T
c.C2566T

p.R414W
p.R824W
p.R856W

20.3

-

Fu2022 E

SIN3B

1-0126-003

chr19:
16949424-16949424

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 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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