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Results for "NPFFR2"

Variant Events: 16

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
NPFFR2     AU4093301chr4:
73098224-73098224
ATintergenicDe novo--Yuen2017 G
NPFFR2     2-1581-003chr4:
73074050-73074058
ATAATTAATATAATintergenicDe novo--Yuen2017 G
NPFFR2     1-0994-003chr4:
73120530-73120530
GTintergenicDe novo--Yuen2017 G
NPFFR2     SSC00625chr4:
72994491-72994491
GAexonicDe novononsynonymous SNVNM_004885
NM_053036
NM_001144756
c.G489A
c.G183A
c.G192A
p.M163I
p.M61I
p.M64I
8.023-Lim2017 E
NPFFR2     13393.p1chr4:
73115333-73115333
GAintergenicDe novo--Turner2016 G
NPFFR2     11412.p1 Complex Event; expand row to view variants  De novononsynonymous SNVNM_004885
NM_053036
NM_001144756
NM_004885
NM_053036
NM_001144756
c.G489A
c.G183A
c.G192A
c.G489C
c.G183C
c.G192C
p.M163I
p.M61I
p.M64I
p.M163I
p.M61I
p.M64I
8.023-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
NPFFR2     13094.p1chr4:
72954113-72954113
TTAintronicDe novo--Wilfert2021 G
NPFFR2     AU057405chr4:
73036968-73036968
CAintergenicDe novo--Yuen2017 G
NPFFR2     12888.p1chr4:
72946113-72946115
CTCGTTintronicMaternal--Wilfert2021 G
NPFFR2     1-0567-004chr4:
72908623-72908623
CGintronicDe novo--Yuen2017 G
NPFFR2     iHART2320chr4:
73013007-73013008
CACexonicMaternalframeshift deletionNM_004885
NM_053036
NM_001144756
c.1048delA
c.742delA
c.751delA
p.R350fs
p.R248fs
p.R251fs
-8.238E-5Ruzzo2019 G
NPFFR2     iHART2321chr4:
73013007-73013008
CACexonicMaternalframeshift deletionNM_004885
NM_053036
NM_001144756
c.1048delA
c.742delA
c.751delA
p.R350fs
p.R248fs
p.R251fs
-8.238E-5Ruzzo2019 G
NPFFR2     2-0003-003chr4:
73093669-73093669
TAintergenicDe novo--Yuen2017 G
NPFFR2     AU3702306chr4:
73070668-73070671
ATTTATTTTintergenicDe novo--Yuen2017 G
NPFFR2     80001102141chr4:
72994533-72994533
TCexonicDe novosynonymous SNVNM_004885
NM_053036
NM_001144756
c.T531C
c.T225C
c.T234C
p.H177H
p.H75H
p.H78H
--Satterstrom2020 E
NPFFR2     7-0024-003chr4:
72973200-72973200
AGintronicDe 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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