Variant Results

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Results for "IL4R"

Variant Events: 8

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	Cukier2014:7506	chr16: 27374696-27374696	C	T	exonic		Unknown	nonsynonymous SNV	NM_001257406 NM_001257997 NM_000418 NM_001257407	c.C2023T c.C1543T c.C2023T c.C1978T	p.P675S p.P515S p.P675S p.P660S	12.04	0.0109	Cukier2014 E
IL4R	1-0381-003	chr16: 27349630-27349630	C	T	intronic		De novo					-	-	Yuen2017 G
IL4R	2-1626-003	chr16: 27387762-27387762	T	C	intergenic		De novo					-	-	Yuen2017 G
IL4R	iHART1421	chr16: 27373975-27373976	AC	A	exonic		Paternal	frameshift deletion	NM_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	1-0458-003	chr16: 27367114-27367114	C	A	intronic		De novo					-	-	Yuen2017 G
IL4R	2-1283-003	chr16: 27359817-27359817	C	T	intronic		De novo					-	-	Yuen2017 G
IL4R	AU3517302	chr16: 27389153-27389153	C	G	intergenic		De novo					-	-	Yuen2017 G
IL4R	2-1283-004	chr16: 27359817-27359817	C	T	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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