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Results for "PPP4R3B"

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
PPP4R3B     1-0674-003chr2:
55854573-55854573
TCintergenicDe novo--Yuen2017 G
PPP4R3B     AU4145303chr2:
55781295-55781295
GAintronicDe novo--Yuen2017 G
PPP4R3B     Chen2017:58chr2:
55825640-55825640
GCexonicDe novononsynonymous SNVNM_001122964
NM_001282850
NM_020463
c.C833G
c.C833G
c.C833G
p.P278R
p.P278R
p.P278R
19.65-Chen2017 E
PPP4R3B     AU024104chr2:
55838057-55838057
GAintronicDe novo--Yuen2017 G
PPP4R3B     200675489@1082035027chr2:
55825640-55825640
GCexonicDe novononsynonymous SNVNM_001122964
NM_001282850
NM_020463
c.C833G
c.C833G
c.C833G
p.P278R
p.P278R
p.P278R
19.65-Satterstrom2020 E
PPP4R3B     11610.p1chr2:
55826186-55826186
CGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PPP4R3B     1-0292-005chr2:
55797578-55797578
GTintronicDe novo--Yuen2017 G
PPP4R3B     10C106627chr2:
55808728-55808728
GCexonicDe novononsynonymous SNVNM_001122964
NM_001282850
NM_020463
c.C1340G
c.C1340G
c.C1340G
p.P447R
p.P447R
p.P447R
28.1-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
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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