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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     2-1131-003chr9:
94384609-94384609
AGintergenicDe novo--Yuen2017 G
NFIL3     7-0175-003chr9:
94171505-94171505
CTUTR3De novo--Yuen2017 G
NFIL3     Lim2017:35962chr9:
94172880-94172880
ACexonicDe novononsynonymous SNVNM_001289999
NM_001290000
NM_005384
c.T137G
c.T137G
c.T137G
p.L46R
p.L46R
p.L46R
25.9-Lim2017 E
NFIL3     1-0736-003chr9:
94240761-94240761
TGintergenicDe novo--Yuen2017 G
NFIL3     1-0320-004chr9:
94223678-94223678
GCintergenicDe novo--Yuen2017 G
NFIL3     2-1644-004chr9:
94302741-94302741
AGintergenicDe novo--Yuen2017 G
NFIL3     AU3951301chr9:
94306666-94306666
TCintergenicDe novo--Yuen2017 G
NFIL3     13703.p1chr9:
94172880-94172880
ACexonicDe novononsynonymous SNVNM_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     AU4092302chr9:
94213473-94213473
CTintergenicDe novo--Yuen2017 G
NFIL3     AU1742302chr9:
94212797-94212797
AGintergenicDe novo--Yuen2017 G
NFIL3     5-0106-003chr9:
94282064-94282077
AAAAGAAAGAAAGAAAAAGAAAGAintergenicDe 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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