Variant Results

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Results for "R3HDM4"

Variant Events: 6

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
R3HDM4	ASC_131756	chr19: 902139-902139	C	T	intronic		De novo					-	-	Satterstrom2020 E
R3HDM4	7-0055-003	chr19: 904846-904846	G	A	intronic		De novo					-	-	Yuen2017 G
R3HDM4	12529.p1	chr19: 916199-916199	G	T	intergenic		De novo					-	-	Turner2016 G
R3HDM4	14271.p1	chr19: 902166-902200	GGCCGGCCAGGATCTCCGAGAAGGGCCCTACCACA	G	intronic		De novo					-	-	Wilfert2021 G
R3HDM4	Cukier2014:7531	chr19: 900951-900951	A	G	exonic		Unknown	nonsynonymous SNV	NM_138774	c.T353C	p.V118A	11.68	0.0491	Cukier2014 E
R3HDM4	iHART1108	chr19: 897534-897548	TCAGCACCTGCAGAC	T	exonic		Paternal	nonframeshift deletion	NM_138774	c.704_709del	p.235_237del	-	-	Ruzzo2019 G

Source Variant Information

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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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