Variant Results

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Results for "RORC"

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
RORC	AU3586303	chr1: 151779634-151779634	T	C	UTR3		De novo					-	-	Yuen2017 G
RORC	AU3517301	chr1: 151779634-151779634	T	C	UTR3		De novo					-	-	Trost2022 G
RORC	AU221A	chr1: 151783852-151783852	C	T	exonic		De novo	synonymous SNV	NM_001001523 NM_005060	c.G1281A c.G1344A	p.L427L p.L448L	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RORC	DEASD_0062_001	chr1: 151787862-151787862	C	G	exonic		De novo	nonsynonymous SNV	NM_001001523 NM_005060	c.G275C c.G338C	p.S92T p.S113T	17.42	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RORC	150999	chr1: 151787079-151787079	G	A	exonic		De novo	nonsynonymous SNV	NM_001001523 NM_005060	c.C841T c.C904T	p.R281W p.R302W	23.1	1.835E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RORC	12750.p1	chr1: 151787420-151787420	C	G	exonic		Mosaic	synonymous SNV	NM_001001523 NM_005060	c.G717C c.G780C	p.P239P p.P260P	-	-	Dou2017 E
RORC	PN400182	chr1: 151804213-151804213	G	A	exonic		Unknown	stopgain	NM_005060	c.C28T	p.R10X	36.0	0.0025	Leblond2019 E
RORC	EGAN00001101028	chr1: 151780036-151780036	T	G	exonic		De novo	nonsynonymous SNV	NM_001001523 NM_005060	c.A1406C c.A1469C	p.H469P p.H490P	27.4	8.308E-5	Fu2022 E

Source Variant Information

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Paper Information

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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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