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Results for "HNRNPR"

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
HNRNPR     1569-22238chr1:
23648092-23648092
CTexonicInheritednonsynonymous SNVNM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826
c.G260A
c.G323A
c.G437A
c.G437A
c.G626A
c.G740A
c.G740A
p.R87K
p.R108K
p.R146K
p.R146K
p.R209K
p.R247K
p.R247K
33.0-Callaghan2019 G
HNRNPR     12568.p1chr1:
23675035-23675035
TCintergenicDe novo--Turner2016 G
HNRNPR     AU1725302chr1:
23680228-23680228
CTintergenicDe novo--Yuen2017 G
HNRNPR     AU026Achr1:
23637156-23637156
GAexonicDe novononsynonymous SNVNM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826
c.C1213T
c.C1276T
c.C1390T
c.C1399T
c.C1579T
c.C1702T
c.C1693T
p.R405C
p.R426C
p.R464C
p.R467C
p.R527C
p.R568C
p.R565C
11.788.251E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HNRNPR     12087.p1chr1:
23637301-23637301
CGexonicDe novononsynonymous SNVNM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826
c.G1068C
c.G1131C
c.G1245C
c.G1254C
c.G1434C
c.G1557C
c.G1548C
p.R356S
p.R377S
p.R415S
p.R418S
p.R478S
p.R519S
p.R516S
1.23-Krumm2015 E
Satterstrom2020 E
Wang2020 T
HNRNPR     SSC03844chr1:
23637301-23637301
CGexonicDe novononsynonymous SNVNM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826
c.G1068C
c.G1131C
c.G1245C
c.G1254C
c.G1434C
c.G1557C
c.G1548C
p.R356S
p.R377S
p.R415S
p.R418S
p.R478S
p.R519S
p.R516S
1.23-Lim2017 E
HNRNPR     2-1690-003chr1:
23681830-23681830
GAintergenicDe novo--Yuen2017 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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