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Results for "MOB4"

Variant Events: 11

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
MOB4     AU005214chr2:
198408344-198408344
GCintronicDe novo--Trost2022 G
Trost2022 G
Yuen2017 G
MOB4     1-1005-004chr2:
198405745-198405745
CTintronicDe novo--Trost2022 G
Trost2022 G
MOB4     MSSNG00056-003chr2:
198415884-198415884
AGUTR3De novo--Trost2022 G
Trost2022 G
MOB4     AU2687301chr2:
198391920-198391924
TTAGATintronicDe novo--Trost2022 G
Trost2022 G
MOB4     10C104458chr2:
198388394-198388394
CTexonicDe novononsynonymous SNVNM_001204094
NM_015387
NM_199482
NM_001202485
c.C11T
c.C107T
c.C11T
c.C215T
p.T4I
p.T36I
p.T4I
p.T72I
15.53-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MOB4     5-5203-003chr2:
198396104-198396104
AGintronicDe novo--Trost2022 G
Trost2022 G
MOB4     SP0097018chr2:
198414967-198414967
CAintronicDe novo--Fu2022 E
MOB4     SP0205401chr2:
198381070-198381070
CTUTR5De novo--Trost2022 G
Trost2022 G
MOB4     5-0068-003chr2:
198415087-198415087
CTexonicDe novononsynonymous SNVNM_001100819
NM_001204094
NM_015387
NM_199482
NM_001202485
c.C460T
c.C427T
c.C523T
c.C427T
c.C631T
p.R154W
p.R143W
p.R175W
p.R143W
p.R211W
20.4-Trost2022 G
Trost2022 G
Zhou2022 GE
MOB4     2-0286-004chr2:
198388043-198388043
CTintronicDe novo--Trost2022 G
Yuen2017 G
MOB4     SP0043290chr2:
198413076-198413076
AGexonicnonsynonymous SNVNM_001100819
NM_001204094
NM_015387
NM_199482
NM_001202485
c.A308G
c.A275G
c.A371G
c.A275G
c.A479G
p.Y103C
p.Y92C
p.Y124C
p.Y92C
p.Y160C
22.1-Antaki2022 GE
Zhou2022 GE
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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