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Results for "PPRC1"

Variant Events: 6

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
PPRC1     SSC06545chr10:
103908608-103908608
CTexonicDe novononsynonymous SNVNM_001288727
NM_001288728
NM_015062
c.C3860T
c.C4286T
c.C4652T
p.P1287L
p.P1429L
p.P1551L
19.5-Lim2017 E
PPRC1     NP044chr10:
103908274-103908274
CTexonicMosaicnonsynonymous SNVNM_001288727
NM_001288728
NM_015062
c.C3754T
c.C4186T
c.C4546T
p.R1252W
p.R1396W
p.R1516W
15.438.237E-6Lim2017 E
PPRC1     09C99453chr10:
103900883-103900883
CGexonicDe novononsynonymous SNVNM_001288727
NM_001288728
NM_015062
c.C2618G
c.C2258G
c.C2618G
p.P873R
p.P753R
p.P873R
8.515-Satterstrom2020 E
PPRC1     12605.p1chr10:
103908608-103908608
CTexonicDe novononsynonymous SNVNM_001288727
NM_001288728
NM_015062
c.C3860T
c.C4286T
c.C4652T
p.P1287L
p.P1429L
p.P1551L
19.5-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
PPRC1     PN400363chr10:
103900508-103900508
CTexonicUnknownnonsynonymous SNVNM_001288727
NM_001288728
NM_015062
c.C2243T
c.C1883T
c.C2243T
p.P748L
p.P628L
p.P748L
27.8-Leblond2019 E
PPRC1     Cukier2014:37425chr10:
103907055-103907055
CTexonicUnknownnonsynonymous SNVNM_001288728
NM_015062
c.C3946T
c.C4306T
p.R1316W
p.R1436W
17.320.0123Cukier2014 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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