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Results for "CLPB"

Variant Events: 17

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
CLPB     MSSNG00341-003chr11:
72116322-72116322
GCintronicDe novo--Trost2022 G
CLPB     AU4012302chr11:
72205284-72205284
CAintergenicDe novo--Yuen2017 G
CLPB     2-1464-003chr11:
72103505-72103505
GAintronicDe novo--Trost2022 G
CLPB     1-1196-003chr11:
72106541-72106541
TCintronicDe novo--Trost2022 G
CLPB     AU1725306chr11:
72023787-72023787
GAintronicDe novo--Trost2022 G
Yuen2017 G
CLPB     1-0681-003chr11:
72030840-72030840
ACintronicDe novo--Trost2022 G
CLPB     AU2579302chr11:
72103074-72103074
GAintronicDe novo--Trost2022 G
CLPB     1-0226-005chr11:
72157203-72157203
TAintergenicDe novo--Yuen2017 G
CLPB     iHART1408chr11:
72084002-72084002
CAexonicMaternalstopgainNM_030813
NM_001258394
c.G703T
c.G568T
p.E235X
p.E190X
32.03.299E-5Ruzzo2019 G
CLPB     AU3955303chr11:
72107593-72107593
GTintronicDe novo--Trost2022 G
Yuen2017 G
CLPB     2-0309-004chr11:
72197544-72197544
GAintergenicDe novo--Yuen2017 G
CLPB     MSSNG00026-003chr11:
72003833-72003833
GTUTR3De novo--Trost2022 G
CLPB     1-0290-003chr11:
72111282-72111282
TCintronicDe novo--Yuen2017 G
CLPB     mAGRE1408chr11:
72084002-72084002
CAexonicMaternalstopgainNM_030813
NM_001258394
c.G703T
c.G568T
p.E235X
p.E190X
32.03.299E-5Cirnigliaro2023 G
CLPB     74-0352chr11:
72165714-72165714
CTintergenicDe novo--Michaelson2012 G
CLPB     AU1995302chr11:
72153073-72153073
AGintergenicDe novo--Yuen2017 G
CLPB     1-0387-003chr11:
72236350-72236350
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
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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