Variant Results

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Results for "HIPK4"

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
HIPK4	111302	chr19: 40889838-40889838	C	T	exonic			nonsynonymous SNV	NM_144685	c.G674A	p.R225H	35.0	5.771E-5	Woodbury-Smith2022 E
HIPK4	A1382B	chr19: 40885598-40885598	C	T	exonic		De novo	nonsynonymous SNV	NM_144685	c.G1747A	p.V583I	0.393	2.0E-4	Fu2022 E
HIPK4	13050.p1	chr19: 40886787-40886787	G	C	exonic			nonsynonymous SNV	NM_144685	c.C1111G	p.L371V	10.57	-	Zhou2022 GE
HIPK4	SP0232520	chr19: 40886840-40886840	C	T	exonic		De novo	nonsynonymous SNV	NM_144685	c.G1058A	p.R353H	24.9	1.663E-5	Trost2022 G
HIPK4	SSC06569	chr19: 40886787-40886787	G	C	exonic		De novo	nonsynonymous SNV	NM_144685	c.C1111G	p.L371V	10.57	-	Lim2017 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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