or
or
Exact

Results for "ZEB1"

Variant Events: 42

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
ZEB1     AU050604chr10:
31627507-31627507
AGintronicDe novo--Yuen2017 G
ZEB1     SP0018656chr10:
31809151-31809152
ACAexonicDe novoframeshift deletionNM_001174093
NM_001174095
NM_001128128
NM_001174094
NM_001174096
NM_030751
c.829delC
c.688delC
c.841delC
c.838delC
c.892delC
c.889delC
p.P277fs
p.P230fs
p.P281fs
p.P280fs
p.P298fs
p.P297fs
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ZEB1     AU0452304chr10:
31738308-31738308
CTintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     SP0037814chr10:
31750176-31750176
AATintronicDe novo-9.0E-4Fu2022 E
ZEB1     7-0250-003chr10:
32062633-32062633
CGintergenicDe novo--Yuen2017 G
ZEB1     1-0445-003chr10:
31787485-31787485
CGintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     1-0627-006chr10:
31754763-31754763
GCintronicDe novo--Yuen2017 G
ZEB1     1-0206-003chr10:
31635486-31635486
CTintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     REACH000616chr10:
31634752-31634752
GAintronicDe novo--Trost2022 G
ZEB1     1-0403-004chr10:
31741794-31741794
ACintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     AU3632301chr10:
31927261-31927261
CGintergenicDe novo--Yuen2017 G
ZEB1     AU2320301chr10:
31640843-31640843
GAintronicDe novo--Trost2022 G
ZEB1     D4S2Z-01chr10:
31626643-31626643
CTintronicDe novo--Trost2022 G
ZEB1     2-1436-003chr10:
31710171-31710171
AGintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     AU2794301chr10:
31731052-31731052
GAintronicDe novo--Trost2022 G
ZEB1     7-0462-003chr10:
31731515-31731515
AGintronicDe novo--Trost2022 G
ZEB1     5-1012-004chr10:
31700710-31700710
AGintronicDe novo--Trost2022 G
ZEB1     AU2216201chr10:
31703686-31703687
ACAintronicDe novo--Trost2022 G
ZEB1     7-0412-003chr10:
31695936-31695936
TAintronicDe novo--Trost2022 G
ZEB1     5-1012-004chr10:
31700705-31700705
TCintronicDe novo--Trost2022 G
ZEB1     3-0114-000chr10:
31675196-31675196
GTintronicDe novo--Trost2022 G
ZEB1     4-0086-003chr10:
31693886-31693886
GCintronicDe novo--Trost2022 G
ZEB1     1-0464-003chr10:
31851912-31851912
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZEB1     2-1437-004chr10:
31887132-31887132
CTintergenicDe novo--Yuen2017 G
ZEB1     AU4234303chr10:
31673998-31673998
TCintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     SP0161693chr10:
31810792-31810792
CTexonicDe novosynonymous SNVNM_001174093
NM_001174095
NM_001128128
NM_001174094
NM_001174096
NM_030751
c.C2469T
c.C2328T
c.C2481T
c.C2478T
c.C2532T
c.C2529T
p.Y823Y
p.Y776Y
p.Y827Y
p.Y826Y
p.Y844Y
p.Y843Y
--Trost2022 G
ZEB1     4903chr10:
31803658-31803658
AGintronicDe novo-9.01E-6Trost2022 G
ZEB1     AU050603chr10:
31806468-31806468
TCintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     MSSNG00098-004chr10:
31805608-31805608
ATintronicDe novo--Trost2022 G
ZEB1     2-1322-004chr10:
31671097-31671097
TCintronicDe novo--Yuen2017 G
ZEB1     2-1327-004chr10:
31757974-31757974
GAintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     SJD_58.3chr10:
31740149-31740149
TCintronicDe novo--Trost2022 G
ZEB1     SP0107614chr10:
31810706-31810706
GTexonicDe novononsynonymous SNVNM_001174093
NM_001174095
NM_001128128
NM_001174094
NM_001174096
NM_030751
c.G2383T
c.G2242T
c.G2395T
c.G2392T
c.G2446T
c.G2443T
p.V795L
p.V748L
p.V799L
p.V798L
p.V816L
p.V815L
12.89-Fu2022 E
Trost2022 G
Zhou2022 GE
ZEB1     REACH000229chr10:
31768164-31768164
TGintronicDe novo--Trost2022 G
ZEB1     AU4223302chr10:
31702978-31702978
TGintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     13532.p1chr10:
31803658-31803658
AGintronicDe novo-9.01E-6Krumm2015 E
Satterstrom2020 E
ZEB1     1-0329-004chr10:
31800272-31800272
TGintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     AU1542303chr10:
31936294-31936294
GAintergenicDe novo--Yuen2017 G
ZEB1     14496.p1chr10:
31892016-31892016
TGintergenicDe novo--Turner2016 G
ZEB1     2-1114-003chr10:
31864193-31864193
CTintergenicDe novo--Yuen2017 G
ZEB1     AU2569303chr10:
31764309-31764309
GTintronicDe novo--Trost2022 G
Yuen2017 G
ZEB1     AU1223301chr10:
31753174-31753174
CTintronicDe novo--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 notesView
More