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Results for "PPCS"

Variant Events: 7

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
PPCS     2-1529-003chr1:
42956085-42956085
TAintergenicDe novo--Yuen2017 G
PPCS     AU1987304chr1:
42927578-42927578
GAintronicDe novo--Yuen2017 G
PPCS     2-0109-003chr1:
42996732-42996732
AGintergenicDe novo--Yuen2017 G
PPCS     G01-GEA-328_HIchr1:
42922220-42922220
CTUTR5De novo-2.0E-4Satterstrom2020 E
PPCS     SP0027448chr1:
42922450-42922451
GCGexonicDe novoframeshift deletionNM_001287511
NM_024664
c.215delC
c.215delC
p.A72fs
p.A72fs
--Feliciano2019 E
PPCS     P1466chr1:
42925473-42925473
CAexonicDe novononsynonymous SNVNM_001287510
NM_001077447
NM_001287506
NM_001287507
NM_001287508
NM_001287509
NM_024664
c.C293A
c.C293A
c.C293A
c.C194A
c.C293A
c.C293A
c.C812A
p.T98N
p.T98N
p.T98N
p.T65N
p.T98N
p.T98N
p.T271N
22.1-Hashimoto2016 E
PPCS     10C100480chr1:
42922346-42922346
TGexonicDe novononsynonymous SNVNM_001287511
NM_024664
c.T110G
c.T110G
p.V37G
p.V37G
23.39.0E-4Satterstrom2020 E
Source Variant Information

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Source:

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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