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Results for "ERP44"

Variant Events: 10

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
ERP44     1-1000-003chr9:
102799506-102799506
CTintronicDe novo--Yuen2017 G
ERP44     12803.p1chr9:
102784415-102784415
CTexonicDe novononsynonymous SNVNM_015051c.G380Ap.R127Q36.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ERP44     AU066404chr9:
102820638-102820638
AGintronicDe novo--Yuen2017 G
ERP44     1-0393-003chr9:
102831218-102831218
TCintronicDe novo--Yuen2017 G
ERP44     2-1737-003chr9:
102783931-102783931
GAintronicDe novo--Yuen2017 G
ERP44     2-0289-004chr9:
102786282-102786282
CCAintronicDe novo--Yuen2017 G
ERP44     SSC06229chr9:
102784415-102784415
CTexonicDe novononsynonymous SNVNM_015051c.G380Ap.R127Q36.0-Lim2017 E
ERP44     1-0526-003chr9:
102852769-102852769
GAintronicDe novo--Yuen2017 G
ERP44     AU050910chr9:
102837709-102837709
GAintronicDe novo--Yuen2017 G
ERP44     F10384-1chr9:
102768944-102768944
AACACintronicDe novo-1.756E-5Satterstrom2020 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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