Variant Results

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Results for "KLHL20"

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
KLHL20	14574.p1	chr1: 173703162-173703162	C	T	exonic		Mosaic	stopgain	NM_014458	c.C334T	p.R112X	19.11	8.237E-6	Dou2017 E
KLHL20	AU070007	chr1: 173702348-173702348	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KLHL20	1-0104-003	chr1: 173685340-173685340	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KLHL20	Sleyp2022:P6	chr1: 173726216-173726216	G	A	exonic		De novo	nonsynonymous SNV	NM_014458	c.G1069A	p.G357R	13.16	-	Sleyp2022 T
KLHL20	1-0628-003	chr1: 173748077-173748077	T	C	intronic		De novo					-	-	Trost2022 G
KLHL20	1022001	chr1: 173735347-173735347	G	A	exonic		De novo	nonsynonymous SNV	NM_014458	c.G1214A	p.S405N	29.8	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
KLHL20	Sleyp2022:P2	chr1: 173726216-173726216	G	A	exonic		De novo	nonsynonymous SNV	NM_014458	c.G1069A	p.G357R	13.16	-	Sleyp2022 T
KLHL20	3-0475-000	chr1: 173698402-173698402	G	T	intronic		De novo					-	-	Trost2022 G
KLHL20	Sleyp2022:P1	chr1: 173726216-173726216	G	A	exonic		De novo	nonsynonymous SNV	NM_014458	c.G1069A	p.G357R	13.16	-	Sleyp2022 T

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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