Variant Results

or

Results for "SATB2"

Variant Events: 44

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

SATB2

REACH000555

chr2:
200224088-200224088

C

T

intronic

De novo

-

Trost2022 G

SATB2

SP0078989

chr2:
200298289-200298289

A

C

intronic

De novo

-

Fu2022 E

SATB2

4-0062-003

chr2:
200226998-200227002

ATTCC

TTCCT

intronic

De novo

-

Trost2022 G

SATB2

7-0227-003

chr2:
200216745-200216745

G

A

intronic

De novo

-

Trost2022 G

SATB2

2-1493-003

chr2:
200216745-200216745

G

A

intronic

De novo

-

Trost2022 G

SATB2

SP0000665

chr2:
200193509-200193509

T

G

exonic

De novo

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.A1298C
c.A1298C
c.A1298C

p.Y433S
p.Y433S
p.Y433S

24.4

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SATB2

7-0252-003

chr2:
200180952-200180952

C

T

intronic

De novo

-

Trost2022 G

SATB2

3-0095-000

chr2:
200193795-200193795

T

C

intronic

De novo

-

Trost2022 G

SATB2

G01_GEA532HI

chr2:
200213898-200213898

T

C

splicing

De novo

splicing

19.25

-

Fu2022 E

SATB2

5340

chr2:
200173469-200173469

T

G

intronic

De novo

-

6.0E-4

Trost2022 G

SATB2

09C91337

chr2:
200245231-200245231

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SATB2

5-0005-003

chr2:
200174370-200174370

T

C

intronic

De novo

-

Trost2022 G

SATB2

MSSNG00359-003

chr2:
200296387-200296387

A

G

intronic

De novo

-

Trost2022 G

SATB2

4-0062-003

chr2:
200316224-200316225

AA

TG

intronic

De novo

-

Trost2022 G

SATB2

AU4007301

chr2:
200244090-200244090

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SATB2

SP0152867

chr2:
200173583-200173583

A

AG

exonic

frameshift insertion

NM_001172509
NM_001172517
NM_015265

c.1639dupC
c.1639dupC
c.1639dupC

p.L547fs
p.L547fs
p.L547fs

-

Zhou2022 GE

SATB2

MSSNG00343-004

chr2:
200281556-200281556

G

A

intronic

De novo

-

Trost2022 G

SATB2

7-0105-003

chr2:
200283489-200283490

GA

G

intronic

De novo

-

Trost2022 G

SATB2

2-0210-005

chr2:
200286114-200286114

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SATB2

1-0172-005

chr2:
200266052-200266052

C

T

intronic

De novo

-

Trost2022 G

SATB2

3-0146-000

chr2:
200269378-200269378

T

TA

intronic

De novo

-

Trost2022 G

SATB2

MT_38.3

chr2:
200230555-200230555

G

A

intronic

De novo

-

Trost2022 G

SATB2

2-0002-005

chr2:
200256987-200256987

C

T

intronic

De novo

-

Trost2022 G

SATB2

SP0330797

chr2:
200213635-200213635

A

G

exonic

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.T962C
c.T962C
c.T962C

p.I321T
p.I321T
p.I321T

17.53

-

Zhou2022 GE

SATB2

5-0014-003

chr2:
200290222-200290222

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SATB2

11303.p1

chr2:
200173469-200173469

T

G

intronic

De novo

-

6.0E-4

Satterstrom2020 E

SATB2

SP0152867

chr2:
200173586-200173586

T

A

exonic

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.A1637T
c.A1637T
c.A1637T

p.N546I
p.N546I
p.N546I

16.83

-

Zhou2022 GE

SATB2

2-1258-004

chr2:
200330775-200330775

C

CTTAG

intronic

De novo

-

Trost2022 G

SATB2

SP0272150

chr2:
200298226-200298226

G

A

exonic

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.C181T
c.C181T
c.C181T

p.P61S
p.P61S
p.P61S

33.0

-

Zhou2022 GE

SATB2

2-1334-003

chr2:
200137173-200137173

G

A

exonic

Inherited

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.C1963T
c.C1963T
c.C1963T

p.P655S
p.P655S
p.P655S

23.3

-

Jiang2013 G

SATB2

SF0061386.p1

chr2:
200193521-200193521

C

T

exonic

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.G1286A
c.G1286A
c.G1286A

p.R429Q
p.R429Q
p.R429Q

35.0

-

Wang2020 T

SATB2

11719-1

chr2:
200213750-200213750

G

A

exonic

De novo

stopgain

NM_001172509
NM_001172517
NM_015265

c.C847T
c.C847T
c.C847T

p.R283X
p.R283X
p.R283X

38.0

-

Fu2022 E

SATB2

TASC_214-17032-1

chr2:
200245122-200245122

G

A

exonic

Unknown

stopgain

NM_001172509
NM_001172517
NM_015265

c.C562T
c.C562T
c.C562T

p.Q188X
p.Q188X
p.Q188X

41.0

-

Wang2020 T

SATB2

GM181126

chr2:
200245097-200245097

G

A

exonic

De novo

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.C587T
c.C587T
c.C587T

p.P196L
p.P196L
p.P196L

32.0

-

Fu2022 E

SATB2

AGRE_03C14330

chr2:
200173628-200173628

C

T

exonic

Unknown

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.G1595A
c.G1595A
c.G1595A

p.R532H
p.R532H
p.R532H

36.0

-

Wang2020 T

SATB2

TRE_2045

chr2:
200213431-200213431

C

T

exonic

De novo

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.G1166A
c.G1166A
c.G1166A

p.R389H
p.R389H
p.R389H

33.0

-

Fu2022 E

SATB2

5-0055-004

chr2:
200229897-200229897

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SATB2

2-0149-005

chr2:
200201426-200201426

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SATB2

Mahjani2021:4

chr2:
200233421-200233421

A

C

exonic

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.T607G
c.T607G
c.T607G

p.S203A
p.S203A
p.S203A

23.9

-

Mahjani2021 E

SATB2

IGM565

chr2:
200193612-200193612

G

C

exonic

De novo

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.C1195G
c.C1195G
c.C1195G

p.R399G
p.R399G
p.R399G

21.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SATB2

SP0061386

chr2:
200193521-200193521

C

T

exonic

De novo

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.G1286A
c.G1286A
c.G1286A

p.R429Q
p.R429Q
p.R429Q

35.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SATB2

2-0319-003

chr2:
200330775-200330775

C

CTTA

intronic

De novo

-

Yuen2017 G

SATB2

1-0303-004

chr2:
200164353-200164353

A

AT

intronic

De novo

-

Trost2022 G

SATB2

230-10-113219

chr2:
200193486-200193486

T

C

exonic

De novo

nonsynonymous SNV

NM_001172509
NM_001172517
NM_015265

c.A1321G
c.A1321G
c.A1321G

p.M441V
p.M441V
p.M441V

13.55

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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