Variant Results

or

or

Results for "SATB1"

Variant Events: 15

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

SATB1

1-0233-004

chr3:
18443375-18443375

C

T

intronic

De novo

-

-

Yuen2017 G

SATB1

NP119

chr3:
18436215-18436215

T

C

exonic

De novo

synonymous SNV

NM_001131010
NM_001195470
NM_002971

c.A945G
c.A945G
c.A945G

p.Q315Q
p.Q315Q
p.Q315Q

-

Fu2022 E
Lim2017 E

SATB1

1245012

chr3:
18419776-18419777

TG

T

exonic

De novo

frameshift deletion

NM_001131010
NM_001195470
NM_002971

c.1460delC
c.1460delC
c.1460delC

p.P487fs
p.P487fs
p.P487fs

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SATB1

AU2951303

chr3:
18464211-18464211

T

C

intronic

De novo

-

-

Yuen2017 G

SATB1

Mahjani2021:30

chr3:
18390915-18390915

G

A

exonic

nonsynonymous SNV

NM_001131010
NM_002971
NM_001195470

c.C2039T
c.C2039T
c.C2135T

p.A680V
p.A680V
p.A712V

15.31

-

Mahjani2021 E

SATB1

AU2951302

chr3:
18464211-18464211

T

C

intronic

De novo

-

-

Yuen2017 G

SATB1

G01-GEA-225-HI

chr3:
18435955-18435955

T

C

exonic

De novo

nonsynonymous SNV

NM_001131010
NM_001195470
NM_002971

c.A1205G
c.A1205G
c.A1205G

p.Q402R
p.Q402R
p.Q402R

28.4

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SATB1

1-0358-003

chr3:
18433796-18433796

C

A

intronic

De novo

-

-

Yuen2017 G

SATB1

Mahjani2021:102

chr3:
18393675-18393675

C

T

exonic

nonsynonymous SNV

NM_001131010
NM_001195470
NM_002971

c.G1588A
c.G1588A
c.G1588A

p.E530K
p.E530K
p.E530K

35.0

-

Mahjani2021 E

SATB1

7-0392-003

chr3:
18391708-18391708

C

T

intronic

De novo

-

-

Trost2022 G

SATB1

AU4273304

chr3:
18412424-18412424

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SATB1

Mahjani2021:104

chr3:
18462419-18462419

G

T

exonic

stopgain

NM_001131010
NM_001195470
NM_002971

c.C41A
c.C41A
c.C41A

p.S14X
p.S14X
p.S14X

38.0

-

Mahjani2021 E

SATB1

MSSNG00098-004

chr3:
18389076-18389076

T

C

downstream

De novo

-

-

Trost2022 G

SATB1

Mahjani2021:103

chr3:
18456652-18456652

A

C

exonic

nonsynonymous SNV

NM_001131010
NM_001195470
NM_002971

c.T590G
c.T590G
c.T590G

p.L197R
p.L197R
p.L197R

19.31

-

Mahjani2021 E

SATB1

3-0666-001

chr3:
18389837-18389837

C

T

UTR3

De novo

-

-

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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