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Results for "PKIB"

Variant Events: 22

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
PKIB     iHART1060chr6:
122996221-122996221
AGsplicingPaternalsplicing--Ruzzo2019 G
PKIB     A11chr6:
122879902-122879902
ATintronicDe novo--Wu2018 G
PKIB     AU070703chr6:
123009452-123009452
TCintronicDe novo--Yuen2017 G
PKIB     AU3721301chr6:
122992176-122992176
CTintronicDe novo--Yuen2017 G
PKIB     AU3122301chr6:
122974015-122974015
TCintronicDe novo--Yuen2017 G
PKIB     AU050403chr6:
122856278-122856278
TAintronicDe novo--Yuen2017 G
PKIB     5-0033-004chr6:
122844851-122844851
TCintronicDe novo--Yuen2017 G
PKIB     AU070007chr6:
123078719-123078719
CTintergenicDe novo--Yuen2017 G
PKIB     AU3727303chr6:
122880124-122880124
AGintronicDe novo--Yuen2017 G
PKIB     1-0359-003chr6:
122923691-122923691
CAintronicDe novo--Yuen2017 G
PKIB     1-0263-003chr6:
122832598-122832598
TGintronicDe novo--Yuen2016 G
PKIB     1-0173-004chr6:
123024817-123024817
ACintronicDe novo--Yuen2017 G
PKIB     AU4463303chr6:
122889970-122889970
GAintronicDe novo--Yuen2017 G
PKIB     2-1693-003chr6:
123051475-123051475
TCintergenicDe novo--Yuen2017 G
PKIB     AU3885304chr6:
122902367-122902367
GTintronicDe novo--Yuen2017 G
PKIB     1-0067-005chr6:
122882316-122882316
CCTAAintronicDe novo--Yuen2017 G
PKIB     AU3905302chr6:
122879379-122879379
CTintronicDe novo--Yuen2017 G
PKIB     1-0153-005chr6:
122828789-122828789
CTintronicDe novo--Yuen2017 G
PKIB     A17chr6:
123012590-123012590
TCintronicDe novo--Wu2018 G
PKIB     1-0447-003chr6:
122980707-122980707
AGintronicDe novo--Yuen2017 G
PKIB     AU3371305chr6:
122955416-122955419
TGGGTGGintronicDe novo--Yuen2017 G
PKIB     2-1315-003chr6:
122927424-122927424
ACintronicDe 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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