Variant Results

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Results for "MRRF"

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
MRRF	1-0671-003	chr9: 125125317-125125317	T	C	intergenic		De novo					-	-	Yuen2017 G
MRRF	AU2089301	chr9: 125091314-125091314	C	T	intergenic		De novo					-	-	Trost2022 G Yuen2017 G
MRRF	5-5217-003	chr9: 125076915-125076915	C	G	intronic		De novo					-	-	Trost2022 G
MRRF	SSC08756	chr9: 125054092-125054092	G	A	exonic		De novo	nonsynonymous SNV	NM_001173512 NM_199177 NM_138777	c.G368A c.G524A c.G524A	p.G123E p.G175E p.G175E	20.1	-	Fu2022 E Lim2017 E Trost2022 G
MRRF	2-1757-003	chr9: 125085418-125085418	A	G	UTR3		De novo					-	-	Trost2022 G
MRRF	AU3765303	chr9: 125033805-125033805	T	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
MRRF	13692.p1	chr9: 125054092-125054092	G	A	exonic		De novo	nonsynonymous SNV	NM_001173512 NM_199177 NM_138777	c.G368A c.G524A c.G524A	p.G123E p.G175E p.G175E	20.1	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE
MRRF	5-0083-003	chr9: 125076432-125076432	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 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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