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Results for "NFIL3"
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
NFIL3
2-1131-003
chr9:
94384609-94384609
A
G
intergenic
De novo
-
-
Yuen2017
G
NFIL3
7-0175-003
chr9:
94171505-94171505
C
T
UTR3
De novo
-
-
Yuen2017
G
NFIL3
Lim2017:35962
chr9:
94172880-94172880
A
C
exonic
De novo
nonsynonymous SNV
NM_001289999
NM_001290000
NM_005384
c.T137G
c.T137G
c.T137G
p.L46R
p.L46R
p.L46R
25.9
-
Lim2017
E
NFIL3
1-0736-003
chr9:
94240761-94240761
T
G
intergenic
De novo
-
-
Yuen2017
G
NFIL3
1-0320-004
chr9:
94223678-94223678
G
C
intergenic
De novo
-
-
Yuen2017
G
NFIL3
2-1644-004
chr9:
94302741-94302741
A
G
intergenic
De novo
-
-
Yuen2017
G
NFIL3
AU3951301
chr9:
94306666-94306666
T
C
intergenic
De novo
-
-
Yuen2017
G
NFIL3
13703.p1
chr9:
94172880-94172880
A
C
exonic
De novo
nonsynonymous SNV
NM_001289999
NM_001290000
NM_005384
c.T137G
c.T137G
c.T137G
p.L46R
p.L46R
p.L46R
25.9
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Wilfert2021
G
NFIL3
AU4092302
chr9:
94213473-94213473
C
T
intergenic
De novo
-
-
Yuen2017
G
NFIL3
AU1742302
chr9:
94212797-94212797
A
G
intergenic
De novo
-
-
Yuen2017
G
NFIL3
5-0106-003
chr9:
94282064-94282077
AAAAGAAAGAAAGA
AAAAGAAAGA
intergenic
De 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 notes
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