Variant Results

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Results for "OFD1"

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
OFD1	G01-GEA-174-HI	chrX: 13767653-13767653	G	C	splicing		De novo	splicing				21.5	-	Satterstrom2020 E
OFD1	ASD083	chrX: 13778788-13778788	A	G	exonic		Inherited	nonsynonymous SNV	NM_003611	c.A2209G	p.T737A	19.47	4.677E-5	Tran2020 E Wu2019 E
OFD1	3E468	chrX: 13775873-13775873	C	T	exonic		De novo	synonymous SNV	NM_003611	c.C1506T	p.S502S	-	-	Satterstrom2020 E
OFD1	13134.p1	chrX: 13774696-13774696	G	T	splicing		De novo	splicing				16.35	-	Ji2016 E Krumm2015 E Satterstrom2020 E
OFD1	Li2017:17599	chrX: 13771497-13771497	G	C	exonic		Unknown	nonsynonymous SNV	NM_003611	c.G1066C	p.E356Q	19.38	-	Li2017 T

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Paper Information

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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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