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Results for "PAN2"

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
PAN2     PN400556chr12:
56718381-56718381
CTexonicUnknownnonsynonymous SNVNM_001127460
NM_001166279
NM_014871
c.G1712A
c.G1712A
c.G1712A
p.R571H
p.R571H
p.R571H
20.40.0037Leblond2019 E
PAN2     12772.p1chr12:
56720411-56720411
GAexonicDe novononsynonymous SNVNM_001127460
NM_001166279
NM_014871
c.C1252T
c.C1252T
c.C1252T
p.P418S
p.P418S
p.P418S
16.389.506E-6Ji2016 E
Krumm2015 E
Satterstrom2020 E
PAN2     PN400171chr12:
56718381-56718381
CTexonicUnknownnonsynonymous SNVNM_001127460
NM_001166279
NM_014871
c.G1712A
c.G1712A
c.G1712A
p.R571H
p.R571H
p.R571H
20.40.0037Leblond2019 E
PAN2     iHART1510chr12:
56713696-56713698
CTGCexonicPaternalframeshift deletionNM_001127460
NM_001166279
NM_014871
c.2908_2909del
c.2905_2906del
c.2896_2897del
p.Q970fs
p.Q969fs
p.Q966fs
--Ruzzo2019 G
PAN2     2-1480-003chr12:
56721172-56721172
GAexonicDe novononsynonymous SNVNM_001127460
NM_001166279
NM_014871
c.C895T
c.C895T
c.C895T
p.R299C
p.R299C
p.R299C
33.0-Yuen2016 G
Yuen2017 G
PAN2     PN400528chr12:
56718381-56718381
CTexonicUnknownnonsynonymous SNVNM_001127460
NM_001166279
NM_014871
c.G1712A
c.G1712A
c.G1712A
p.R571H
p.R571H
p.R571H
20.40.0037Leblond2019 E
PAN2     PN400170chr12:
56718381-56718381
CTexonicUnknownnonsynonymous SNVNM_001127460
NM_001166279
NM_014871
c.G1712A
c.G1712A
c.G1712A
p.R571H
p.R571H
p.R571H
20.40.0037Leblond2019 E
PAN2     SSC05671chr12:
56720411-56720411
GAexonicDe novononsynonymous SNVNM_001127460
NM_001166279
NM_014871
c.C1252T
c.C1252T
c.C1252T
p.P418S
p.P418S
p.P418S
16.389.506E-6Lim2017 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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