Variant Results

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Results for "MFSD8"

Variant Events: 9

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
MFSD8	AU071204	chr4: 128883825-128883825	C	T	intronic		De novo					-	-	Yuen2017 G
MFSD8	Yin2020:041	chr4: 128864993-128864993	T	C	exonic			nonsynonymous SNV	NM_152778	c.A353G	p.N118S	12.23	8.243E-6	Yin2020 T
MFSD8	iHART2877	chr4: 128843080-128843081	AC	A	exonic		Maternal	frameshift deletion	NM_152778	c.1036delG	p.V346fs	-	-	Ruzzo2019 G
MFSD8	iHART2878	chr4: 128843080-128843081	AC	A	exonic		Maternal	frameshift deletion	NM_152778	c.1036delG	p.V346fs	-	-	Ruzzo2019 G
MFSD8	iHART2879	chr4: 128843080-128843081	AC	A	exonic		Maternal	frameshift deletion	NM_152778	c.1036delG	p.V346fs	-	-	Ruzzo2019 G
MFSD8	SSC06473	chr4: 128886275-128886275	C	A	exonic		De novo	nonsynonymous SNV	NM_152778	c.G14T	p.R5L	9.967	-	Fu2022 E
MFSD8	08C73163	chr4: 128865190-128865190	A	G	intronic		De novo					-	-	Satterstrom2020 E
MFSD8	1-0558-003	chr4: 128868578-128868578	C	A	intronic		De novo					-	-	Yuen2017 G
MFSD8	13088.p1	chr4: 128886275-128886275	C	A	exonic		De novo	nonsynonymous SNV	NM_152778	c.G14T	p.R5L	9.967	-	Satterstrom2020 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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