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Results for "PPP1R36"

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
PPP1R36     1-0052-003chr14:
65087127-65087127
ACintergenicDe novo--Yuen2017 G
PPP1R36     2-1429-004chr14:
65050822-65050822
GAintronicDe novo--Yuen2017 G
PPP1R36     1-0354-006chr14:
65086824-65086824
CTintergenicDe novo--Yuen2017 G
PPP1R36     2-1302-003chr14:
65027472-65027472
AGintronicDe novo--Yuen2017 G
PPP1R36     iHART2446chr14:
65019554-65019554
CTexonicPaternalstopgainNM_172365c.C157Tp.Q53X10.039.065E-5Ruzzo2019 G
PPP1R36     iHART2445chr14:
65019554-65019554
CTexonicPaternalstopgainNM_172365c.C157Tp.Q53X10.039.065E-5Ruzzo2019 G
PPP1R36     iHART2748chr14:
65032338-65032343
TTTCAGTsplicingMaternalsplicing-2.521E-5Ruzzo2019 G
PPP1R36     1-0404-003chr14:
65081057-65081057
GCintergenicDe novo--Yuen2017 G
PPP1R36     iHART2747chr14:
65032338-65032343
TTTCAGTsplicingMaternalsplicing-2.521E-5Ruzzo2019 G
PPP1R36     1-0358-003chr14:
65125584-65125584
GAintergenicDe novo--Yuen2017 G
PPP1R36     AU031203chr14:
65022565-65022577
CCTCTCTCTCTCTCCTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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