Variant Results

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Results for "IL17RC"

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
IL17RC	09C85432	chr3: 9974553-9974553	G	C	intronic		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
IL17RC	11578.p1	chr3: 9971538-9971538	G	A	exonic		Mosaic	synonymous SNV	NM_001203265 NM_001203264 NM_032732 NM_001203263 NM_153460 NM_153461	c.G1017A c.G1062A c.G1068A c.G1113A c.G1113A c.G1326A	p.V339V p.V354V p.V356V p.V371V p.V371V p.V442V	-	-	Dou2017 E
IL17RC	iHART2473	chr3: 9962230-9962230	G	A	exonic		Maternal	stopgain	NM_001203263 NM_001203264 NM_001203265 NM_032732 NM_153460 NM_153461	c.G521A c.G521A c.G521A c.G521A c.G521A c.G734A	p.W174X p.W174X p.W174X p.W174X p.W174X p.W245X	32.0	2.591E-5	Ruzzo2019 G
IL17RC	iHART2086	chr3: 9970030-9970030	C	T	exonic		Paternal	stopgain	NM_001203265 NM_032732 NM_001203263 NM_001203264 NM_153460 NM_153461	c.C874T c.C874T c.C919T c.C919T c.C919T c.C1132T	p.Q292X p.Q292X p.Q307X p.Q307X p.Q307X p.Q378X	16.7	6.0E-4	Ruzzo2019 G
IL17RC	iHART2472	chr3: 9962230-9962230	G	A	exonic		Maternal	stopgain	NM_001203263 NM_001203264 NM_001203265 NM_032732 NM_153460 NM_153461	c.G521A c.G521A c.G521A c.G521A c.G521A c.G734A	p.W174X p.W174X p.W174X p.W174X p.W174X p.W245X	32.0	2.591E-5	Ruzzo2019 G
IL17RC	606_17au	chr3: 9970021-9970021	G	A	exonic		De novo	nonsynonymous SNV	NM_001203265 NM_032732 NM_001203263 NM_001203264 NM_153460 NM_153461	c.G865A c.G865A c.G910A c.G910A c.G910A c.G1123A	p.A289T p.A289T p.A304T p.A304T p.A304T p.A375T	5.381	1.687E-5	Fu2022 E
IL17RC	SP0055293	chr3: 9971881-9971881	A	C	intronic		De novo					-	-	Fu2022 E
IL17RC	SP0040156	chr3: 9960162-9960163	AC	A	intronic		De novo					-	-	Fu2022 E
IL17RC	SP0071558	chr3: 9974597-9974597	C	T	intronic		De novo					-	-	Fu2022 E

Source Variant Information

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Paper Information

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