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Results for "ENPP2"

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
ENPP2     2-1142-003chr8:
120623896-120623896
GAintronicDe novo--Yuen2017 G
ENPP2     SSC05994chr8:
120580466-120580466
AGexonicDe novononsynonymous SNVNM_001040092
NM_001130863
NM_006209
c.T2080C
c.T2155C
c.T2236C
p.Y694H
p.Y719H
p.Y746H
22.6-Lim2017 E
ENPP2     1-0567-003chr8:
120718977-120718977
CCTintergenicDe novo--Yuen2017 G
ENPP2     12799.p1chr8:
120580466-120580466
AGexonicMosaic, De novononsynonymous SNVNM_001040092
NM_001130863
NM_006209
c.T2080C
c.T2155C
c.T2236C
p.Y694H
p.Y719H
p.Y746H
22.6-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ENPP2     1-0556-003chr8:
120644993-120644993
TCintronicDe novo--Yuen2017 G
ENPP2     7-0256-003chr8:
120616425-120616425
GAintronicDe novo--Yuen2017 G
ENPP2     AU4234303chr8:
120571590-120571596
GCAGTCAGCAintronicDe novo--Yuen2017 G
ENPP2     AU017703chr8:
120577750-120577750
TCintronicDe novo--Yuen2017 G
ENPP2     DEASD_0254_001chr8:
120598390-120598390
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ENPP2     NDAR_INVVT972LG7_wes1chr8:
120598589-120598589
TCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ENPP2     13649.p1chr8:
120590418-120590418
GAintronicDe novo--Turner2016 G
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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