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Results for "IL4R"

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
IL4R     mAGRE1421chr16:
27373975-27373976
ACAexonicPaternalframeshift deletionNM_001257406
NM_001257997
NM_000418
NM_001257407
c.1303delC
c.823delC
c.1303delC
c.1258delC
p.P435fs
p.P275fs
p.P435fs
p.P420fs
--Cirnigliaro2023 G
IL4R     1-0381-003chr16:
27349630-27349630
CTintronicDe novo--Trost2022 G
Yuen2017 G
IL4R     14-1011chr16:
27371776-27371776
CTintronicDe novo--Trost2022 G
IL4R     iHART1421chr16:
27373975-27373976
ACAexonicPaternalframeshift deletionNM_001257406
NM_001257997
NM_000418
NM_001257407
c.1303delC
c.823delC
c.1303delC
c.1258delC
p.P435fs
p.P275fs
p.P435fs
p.P420fs
--Ruzzo2019 G
IL4R     MSSNG00217-003chr16:
27350661-27350661
CGintronicDe novo--Trost2022 G
IL4R     2-1740-003chr16:
27363192-27363192
CTintronicDe novo--Trost2022 G
IL4R     1-0458-003chr16:
27367114-27367114
CAintronicDe novo--Trost2022 G
Yuen2017 G
IL4R     CC1264_201chr16:
27363946-27363946
GAexonicDe novononsynonymous SNVNM_001257406
NM_001257997
NM_000418
NM_001257407
c.G599A
c.G119A
c.G599A
c.G554A
p.R200Q
p.R40Q
p.R200Q
p.R185Q
15.97.413E-5Fu2022 E
IL4R     Cukier2014:7506chr16:
27374696-27374696
CTexonicUnknownnonsynonymous SNVNM_001257406
NM_001257997
NM_000418
NM_001257407
c.C2023T
c.C1543T
c.C2023T
c.C1978T
p.P675S
p.P515S
p.P675S
p.P660S
12.040.0109Cukier2014 E
IL4R     SP0080202chr16:
27353414-27353414
CTintronicDe novo-1.665E-5Fu2022 E
Trost2022 G
IL4R     2-1626-003chr16:
27387762-27387762
TCintergenicDe novo--Yuen2017 G
IL4R     AU2463301chr16:
27327333-27327333
GAintronicDe novo--Trost2022 G
IL4R     3-0359-000chr16:
27348991-27348991
CGintronicDe novo--Trost2022 G
IL4R     2-1283-003chr16:
27359817-27359817
CTintronicDe novo--Trost2022 G
Yuen2017 G
IL4R     AU3517302chr16:
27389153-27389153
CGintergenicDe novo--Yuen2017 G
IL4R     2-1283-004chr16:
27359817-27359817
CTintronicDe 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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