or
or
Exact

Results for "SATB2"

Variant Events: 16

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     5-0055-004chr2:
200229897-200229897
AGintronicDe novo--Yuen2017 G
SATB2     SP0000665chr2:
200193509-200193509
TGexonicDe novononsynonymous SNVNM_001172509
NM_001172517
NM_015265
c.A1298C
c.A1298C
c.A1298C
p.Y433S
p.Y433S
p.Y433S
24.4-Feliciano2019 E
SATB2     2-0149-005chr2:
200201426-200201426
AGintronicDe novo--Yuen2017 G
SATB2     SF0061386.p1chr2:
200193521-200193521
CTexonicDe novononsynonymous SNVNM_001172509
NM_001172517
NM_015265
c.G1286A
c.G1286A
c.G1286A
p.R429Q
p.R429Q
p.R429Q
35.0-Wang2020 T
SATB2     09C91337chr2:
200245231-200245231
GAintronicDe novo--Satterstrom2020 E
SATB2     Mahjani2021:4chr2:
200233421-200233421
ACexonicnonsynonymous SNVNM_001172509
NM_001172517
NM_015265
c.T607G
c.T607G
c.T607G
p.S203A
p.S203A
p.S203A
23.9-Mahjani2021 E
SATB2     AU4007301chr2:
200244090-200244090
AGintronicDe novo--Yuen2017 G
SATB2     2-0210-005chr2:
200286114-200286114
CTintronicDe novo--Yuen2017 G
SATB2     IGM565chr2:
200193612-200193612
GCexonicDe novononsynonymous SNVNM_001172509
NM_001172517
NM_015265
c.C1195G
c.C1195G
c.C1195G
p.R399G
p.R399G
p.R399G
21.0-Satterstrom2020 E
SATB2     2-0319-003chr2:
200330775-200330775
CCTTAintronicDe novo--Yuen2017 G
SATB2     214-17032-1chr2:
200245122-200245122
GAexonicUnknownstopgainNM_001172509
NM_001172517
NM_015265
c.C562T
c.C562T
c.C562T
p.Q188X
p.Q188X
p.Q188X
41.0-Wang2020 T
Wang2020 T
SATB2     5-0014-003chr2:
200290222-200290222
TCintronicDe novo--Yuen2017 G
SATB2     11303.p1chr2:
200173469-200173469
TGintronicDe novo-6.0E-4Satterstrom2020 E
SATB2     03C14330chr2:
200173628-200173628
CTexonicUnknownnonsynonymous SNVNM_001172509
NM_001172517
NM_015265
c.G1595A
c.G1595A
c.G1595A
p.R532H
p.R532H
p.R532H
36.0-Wang2020 T
Wang2020 T
SATB2     2-1334-003chr2:
200137173-200137173
GAexonicInheritednonsynonymous SNVNM_001172509
NM_001172517
NM_015265
c.C1963T
c.C1963T
c.C1963T
p.P655S
p.P655S
p.P655S
23.3-Jiang2013 G
SATB2     230-10-113219chr2:
200193486-200193486
TCexonicDe novononsynonymous SNVNM_001172509
NM_001172517
NM_015265
c.A1321G
c.A1321G
c.A1321G
p.M441V
p.M441V
p.M441V
13.55-Satterstrom2020 E
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 notesView
More