Variant Results

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Results for "QRICH1"

Variant Events: 10

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
QRICH1	1-0508-003	chr3: 49080143-49080143	T	A	intronic		De novo					-	-	Yuen2017 G
QRICH1	1-0186-005	chr3: 49107095-49107099	TACAG	T	intronic		De novo					-	-	Yuen2017 G
QRICH1	2-1397-003	chr3: 49083858-49083858	C	T	exonic		De novo	synonymous SNV	NM_198880 NM_017730	c.G1671A c.G1671A	p.K557K p.K557K	-	-	Yuen2017 G
QRICH1	2-1505-003	chr3: 49097219-49097219	C	T	intronic		De novo					-	-	Yuen2017 G
QRICH1	10C116616	chr3: 49114314-49114315	TG	T	exonic		De novo	frameshift deletion	NM_198880 NM_017730	c.136delC c.136delC	p.Q46fs p.Q46fs	-	-	DeRubeis2014 E Kosmicki2017 E Satterstrom2020 E Wang2020 T
QRICH1	12568.p1	chr3: 49131274-49131274	G	C	intronic		De novo					-	-	Turner2016 G
QRICH1	AU036203	chr3: 49101935-49101935	C	T	intronic		De novo					-	-	Yuen2017 G
QRICH1	7-0192-003	chr3: 49069122-49069130	TGAGTGGAG	TGAG	intronic		De novo					-	-	Yuen2017 G
QRICH1	SP0018758	chr3: 49069683-49069683	G	A	exonic		De novo	stopgain	NM_198880 NM_017730	c.C2071T c.C2071T	p.Q691X p.Q691X	42.0	-	Feliciano2019 E
QRICH1	162_1_a.2.1	chr3: 49070064-49070064	C	A	exonic		Unknown	nonsynonymous SNV	NM_198880 NM_017730	c.G2038T c.G2038T	p.G680C p.G680C	26.0	8.721E-6	Wang2020 T Wang2020 T

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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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