Variant Results

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Results for "NEK2"

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
NEK2	2-0309-004	chr1: 211857037-211857037	A	G	intergenic		De novo					-	-	Yuen2017 G
NEK2	1-0219-003	chr1: 211841988-211841988	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
NEK2	7-0385-003	chr1: 211838994-211838994	A	T	intronic		De novo					-	-	Trost2022 G
NEK2	1-0435-003	chr1: 211904326-211904326	C	G	intergenic		De novo					-	-	Yuen2017 G
NEK2	AU037A	chr1: 211843642-211843642	G	A	exonic		De novo	nonsynonymous SNV	NM_001204182 NM_001204183 NM_002497	c.C746T c.C746T c.C746T	p.T249M p.T249M p.T249M	17.4	8.243E-6	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
NEK2	22015.p1	chr1: 211847658-211847658	A	T	exonic			synonymous SNV	NM_001204182 NM_001204183 NM_002497	c.T294A c.T294A c.T294A	p.I98I p.I98I p.I98I	-	-	Zhou2022 GE
NEK2	REACH000078	chr1: 211848153-211848154	TG	T	intronic		De novo					-	-	Trost2022 G
NEK2	SP0161019	chr1: 211843770-211843770	G	C	intronic		De novo					-	-	Trost2022 G
NEK2	mAGRE5192	chr1: 211847857-211847857	T	C	splicing		Paternal	splicing				16.5	2.0E-4	Cirnigliaro2023 G

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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