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Results for "ILF2"

Variant Events: 9

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
ILF2     SSC12446chr1:
153637720-153637720
GAexonicstopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Antaki2022 GE
ILF2     TASC_220-9969-201chr1:
153637720-153637720
GAexonicUnknownstopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Wang2020 T
ILF2     AGRE_09C83102chr1:
153637720-153637720
GAexonicUnknownstopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Wang2020 T
ILF2     1-0274-003chr1:
153644320-153644323
AACCAupstreamDe novo--Trost2022 G
ILF2     10C112515chr1:
153637720-153637720
GAexonicDe novostopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ILF2     AGRE_05C41360chr1:
153637720-153637720
GAexonicUnknownstopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Wang2020 T
ILF2     14621.p1chr1:
153637720-153637720
GAexonicDe novostopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
ILF2     Lim2017:70518chr1:
153637720-153637720
GAexonicDe novostopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Lim2017 E
ILF2     SP0132245chr1:
153637697-153637697
AGexonicsynonymous SNVNM_001267809
NM_004515
c.T462C
c.T576C
p.H154H
p.H192H
--Zhou2022 GE
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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