Variant Results

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Results for "RHNO1"

Variant Events: 5

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
RHNO1	74-0450	chr12: 2994578-2994578	C	G	exonic		Inherited	nonsynonymous SNV	NM_001252499 NM_001252500 NM_001257097 NM_001257098	c.C46G c.C46G c.C46G c.C46G	p.L16V p.L16V p.L16V p.L16V	16.25	0.0037	Patowary2019 E
RHNO1	14545.p1	chr12: 2997411-2997411	A	G	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001252499 NM_001252500 NM_001257097 NM_001257098	c.A503G c.A461G c.A503G c.A503G	p.E168G p.E154G p.E168G p.E168G	1.233	-	Dou2017 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
RHNO1	AU3713301	chr12: 2992805-2992807	TCC	TCCC	intronic		De novo					-	-	Yuen2017 G
RHNO1	iHART2528	chr12: 2997412-2997412	A	AC	exonic		Paternal	frameshift insertion	NM_001252499 NM_001252500 NM_001257097 NM_001257098	c.505dupC c.463dupC c.505dupC c.505dupC	p.E168fs p.E154fs p.E168fs p.E168fs	-	-	Ruzzo2019 G
RHNO1	36838	chr12: 2997411-2997411	A	G	exonic		De novo	nonsynonymous SNV	NM_001252499 NM_001252500 NM_001257097 NM_001257098	c.A503G c.A461G c.A503G c.A503G	p.E168G p.E154G p.E168G p.E168G	1.233	-	Fu2022 E

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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