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Results for "NRAP"

Variant Events: 14

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
NRAP     G01-GEA-203-HIchr10:
115383310-115383310
GAexonicDe novononsynonymous SNVNM_006175
NM_001261463
NM_198060
c.C2330T
c.C2435T
c.C2435T
p.A777V
p.A812V
p.A812V
20.9-Satterstrom2020 E
NRAP     AU4032307chr10:
115373798-115373798
GCintronicDe novo--Yuen2017 G
NRAP     14563.p1chr10:
115406755-115406755
CTexonicDe novononsynonymous SNVNM_001261463
NM_006175
NM_198060
c.G920A
c.G920A
c.G920A
p.G307E
p.G307E
p.G307E
27.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NRAP     08C79293chr10:
115411623-115411623
GAexonicDe novononsynonymous SNVNM_001261463
NM_006175
NM_198060
c.C614T
c.C614T
c.C614T
p.S205F
p.S205F
p.S205F
13.87-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
NRAP     iHART1252chr10:
115410277-115410277
GAexonicMaternalstopgainNM_001261463
NM_006175
NM_198060
c.C703T
c.C703T
c.C703T
p.Q235X
p.Q235X
p.Q235X
37.01.652E-5Ruzzo2019 G
NRAP     iHART1245chr10:
115410277-115410277
GAexonicPaternalstopgainNM_001261463
NM_006175
NM_198060
c.C703T
c.C703T
c.C703T
p.Q235X
p.Q235X
p.Q235X
37.01.652E-5Ruzzo2019 G
NRAP     AU3937301chr10:
115424885-115424885
AGintergenicDe novo--Yuen2017 G
NRAP     iHART2083chr10:
115355414-115355414
GAexonicMaternalstopgainNM_006175
NM_001261463
NM_198060
c.C4399T
c.C4504T
c.C4504T
p.R1467X
p.R1502X
p.R1502X
45.03.0E-4Ruzzo2019 G
NRAP     AU000704chr10:
115368884-115368884
ACintronicDe novo--Yuen2017 G
NRAP     iHART3011chr10:
115374675-115374675
GAexonicPaternalstopgainNM_006175
NM_001261463
NM_198060
c.C3004T
c.C3109T
c.C3109T
p.R1002X
p.R1037X
p.R1037X
41.0-Ruzzo2019 G
NRAP     iHART3014chr10:
115374675-115374675
GAexonicPaternalstopgainNM_006175
NM_001261463
NM_198060
c.C3004T
c.C3109T
c.C3109T
p.R1002X
p.R1037X
p.R1037X
41.0-Ruzzo2019 G
NRAP     Lim2017:36886chr10:
115406755-115406755
CTexonicDe novononsynonymous SNVNM_001261463
NM_006175
NM_198060
c.G920A
c.G920A
c.G920A
p.G307E
p.G307E
p.G307E
27.4-Lim2017 E
NRAP     2-1169-004chr10:
115407194-115407194
AGintronicDe novo--Yuen2017 G
NRAP     EGAN00001101262chr10:
115410242-115410242
TGexonicDe novosynonymous SNVNM_001261463
NM_006175
NM_198060
c.A738C
c.A738C
c.A738C
p.T246T
p.T246T
p.T246T
-3.0E-4Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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