Variant Results

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Results for "NRROS"

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
NRROS	AU3782303	chr3: 196412745-196412745	C	T	intergenic		De novo					-	-	Yuen2017 G
NRROS	14400_p1	chr3: 196387549-196387549	C	T	exonic		De novo	synonymous SNV	NM_198565	c.C1035T	p.D345D	-	8.238E-6	Fu2022 E
NRROS	1-0965-003	chr3: 196396428-196396428	C	T	intergenic		De novo					-	-	Yuen2017 G
NRROS	1-0840-003	chr3: 196386400-196386400	G	A	intronic		De novo					-	-	Trost2022 G
NRROS	12588.p1	chr3: 196387092-196387092	T	C	exonic		De novo	nonsynonymous SNV	NM_198565	c.T578C	p.I193T	21.9	-	Ji2016 E Krumm2015 E Zhou2022 GE
NRROS	4-0062-003	chr3: 196367642-196367642	A	C	intronic		De novo					-	-	Trost2022 G
NRROS	AU059003	chr3: 196384052-196384052	G	A	intronic		De novo					-	-	Trost2022 G
NRROS	14400.p1	chr3: 196387549-196387549	C	T	exonic		De novo	synonymous SNV	NM_198565	c.C1035T	p.D345D	-	8.238E-6	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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Paper Information

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Pubmed
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