Variant Results

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Results for "RUSC1"

Variant Events: 6

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
RUSC1	AU4197301	chr1: 155302733-155302733	C	G	intergenic		De novo					-	-	Yuen2017 G
RUSC1	SP0111126	chr1: 155292764-155292764	G	GC	exonic		De novo	frameshift insertion	NM_001105203 NM_001105204	c.1201dupC c.1201dupC	p.R400fs p.R400fs	-	-	Fu2022 E
RUSC1	SP0093704	chr1: 155292769-155292770	CA	C	exonic		De novo	frameshift deletion	NM_001105203 NM_001105204	c.1206delA c.1206delA	p.P402fs p.P402fs	-	-	Fu2022 E
RUSC1	09C89285	chr1: 155296911-155296911	C	A	exonic		De novo	nonsynonymous SNV	NM_001278228 NM_001278230 NM_001105205 NM_001278227 NM_001278229 NM_014328 NM_001105203 NM_001105204	c.C977A c.C995A c.C1172A c.C896A c.C677A c.C995A c.C2402A c.C2084A	p.A326D p.A332D p.A391D p.A299D p.A226D p.A332D p.A801D p.A695D	12.76	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RUSC1	SP0040514	chr1: 155294565-155294565	T	C	UTR5		De novo					-	-	Fu2022 E Trost2022 G
RUSC1	SP0102057	chr1: 155294612-155294612	C	T	UTR5		De novo					-	1.0E-4	Trost2022 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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