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Results for "PPP1R1C"

Variant Events: 8

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
PPP1R1C     1-0383-003chr2:
182896800-182896800
AGintronicDe novo--Yuen2017 G
PPP1R1C     AU057404chr2:
182958547-182958547
TGintronicDe novo--Yuen2017 G
PPP1R1C     AU4228301chr2:
182999888-182999894
TTCTCTCTTCTCintergenicDe novo--Yuen2017 G
PPP1R1C     1-0142-005chr2:
182861551-182861554
TAGATintronicDe novo--Yuen2017 G
PPP1R1C     AU047904chr2:
182976167-182976167
TAintronicDe novo--Yuen2017 G
PPP1R1C     74-0352chr2:
182998847-182998847
AGintergenicDe novo--Michaelson2012 G
PPP1R1C     1-0433-004chr2:
182886087-182886087
GAintronicDe novo--Yuen2017 G
PPP1R1C     AU2137304chr2:
182998870-182998870
TAintergenicDe novo--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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