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Results for "PBX3"

Variant Events: 38

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
PBX3     1-0745-003chr9:
128783971-128783971
CGintergenicDe novo--Yuen2017 G
PBX3     A32chr9:
129007602-129007602
GAintergenicDe novo--Wu2018 G
PBX3     1-0494-003Achr9:
128790838-128790838
TCintergenicDe novo--Yuen2017 G
PBX3     5-0114-003chr9:
128782253-128782260
TGAGAGAGTGAGAGintergenicDe novo--Yuen2017 G
PBX3     NP147chr9:
128509871-128509871
GAexonicDe novononsynonymous SNVNM_006195c.G139Ap.G47S27.4-Lim2017 E
PBX3     1-0496-003chr9:
128744181-128744181
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
PBX3     2-1416-003chr9:
128991931-128991931
GAintergenicDe novo--Yuen2017 G
PBX3     AU4444304chr9:
128854610-128854610
AGintergenicDe novo--Yuen2017 G
PBX3     AC02-1177-01chr9:
128678099-128678099
GCexonicDe novononsynonymous SNVNM_001134778
NM_006195
c.G184C
c.G409C
p.A62P
p.A137P
14.53-DeRubeis2014 E
Kosmicki2017 E
PBX3     1-0387-003chr9:
128759928-128759928
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PBX3     1-0158-003chr9:
128634976-128634976
TCintronicDe novo--Yuen2017 G
PBX3     1-0629-003chr9:
128914642-128914642
CTintergenicDe novo--Yuen2017 G
PBX3     AU4015303chr9:
128806202-128806202
ACintergenicDe novo--Yuen2017 G
PBX3     AU1860301chr9:
128538986-128538986
ATintronicDe novo--Yuen2017 G
PBX3     1-0777-003chr9:
128836103-128836103
CTintergenicDe novo--Yuen2017 G
PBX3     AU072905chr9:
128935790-128935790
CAintergenicDe novo--Yuen2017 G
PBX3     AU3857301chr9:
128658572-128658572
AGintronicDe novo--Yuen2017 G
PBX3     2-1180-003chr9:
128910391-128910391
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PBX3     2-1416-004chr9:
128991931-128991931
GAintergenicDe novo--Yuen2017 G
PBX3     7-0219-003chr9:
128533311-128533311
TAintronicDe novo--Yuen2017 G
PBX3     AU017704chr9:
128647060-128647062
ACCACCCintronicDe novo--Yuen2017 G
PBX3     A14chr9:
128764405-128764405
GCintergenicDe novo--Wu2018 G
PBX3     2-1134-003chr9:
129004118-129004118
CTintergenicDe novo--Yuen2017 G
PBX3     1-0546-003chr9:
128729285-128729285
CGUTR3De novo--Yuen2017 G
PBX3     AU075803chr9:
128842204-128842204
GAintergenicDe novo--Yuen2017 G
PBX3     2-0244-004chr9:
128725668-128725668
GAintronicDe novo--Yuen2017 G
PBX3     2-1421-003chr9:
128711001-128711001
AGintronicDe novo--Yuen2017 G
PBX3     3-0446-000chr9:
128834373-128834373
AGintergenicDe novo--Yuen2016 G
PBX3     AU072505chr9:
128768484-128768484
CTintergenicDe novo--Yuen2017 G
PBX3     1-0551-004chr9:
128870574-128870574
CTintergenicDe novo--Yuen2017 G
PBX3     1-0231-004chr9:
128747733-128747733
CCATCACCAintergenicDe novo--Yuen2017 G
PBX3     13023.p1chr9:
128936624-128936624
CTintergenicDe novo--Turner2016 G
PBX3     1-0059-003chr9:
128952945-128952945
CCAGCTintergenicDe novo--Yuen2017 G
PBX3     2-1525-003chr9:
129028456-129028456
TAintergenicDe novo--Yuen2017 G
PBX3     AU4343302chr9:
128560765-128560765
ATintronicDe novo--Yuen2017 G
PBX3     1-0323-004chr9:
128977316-128977316
TCintergenicDe novo--Yuen2017 G
PBX3     5-0087-003chr9:
128772665-128772665
GAintergenicDe novo--Yuen2017 G
PBX3     JASD_Fam0190chr9:
128509871-128509871
GAexonicDe novononsynonymous SNVNM_006195c.G139Ap.G47S27.4-Takata2018 E
Source Variant Information

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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
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