Variant Results

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Results for "CDKL3"

Variant Events: 8

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
CDKL3	05.s1	chr5: 133635407-133635407	T	C	exonic		De novo	nonsynonymous SNV	NM_001300853	c.A1187G	p.N396S	6.631	-	An2014 E
CDKL3	11341.p1	chr5: 133690601-133690601	G	A	intronic		De novo					-	-	Turner2016 G
CDKL3	1-0973-003	chr5: 133657364-133657364	A	G	intronic		De novo					-	-	Yuen2017 G
CDKL3	SP0089047	chr5: 133644414-133644414	T	C	exonic		De novo	nonsynonymous SNV	NM_001300853 NM_001113575 NM_016508	c.A319G c.A886G c.A886G	p.M107V p.M296V p.M296V	10.56	-	Fu2022 E
CDKL3	13034_p1	chr5: 133640172-133640172	G	A	exonic		De novo	synonymous SNV	NM_001300853 NM_001113575	c.C978T c.C1545T	p.S326S p.S515S	-	8.83E-6	Fu2022 E
CDKL3	AU2075302	chr5: 133644665-133644665	T	A	intronic		De novo					-	-	Yuen2017 G
CDKL3	iHART1295	chr5: 133640228-133640228	G	A	exonic		Paternal	stopgain	NM_001300853 NM_001113575	c.C922T c.C1489T	p.R308X p.R497X	37.0	1.0E-4	Ruzzo2019 G
CDKL3	13034.p1	chr5: 133640172-133640172	G	A	exonic		De novo	synonymous SNV	NM_001300853 NM_001113575	c.C978T c.C1545T	p.S326S p.S515S	-	8.83E-6	Iossifov2014 E Kosmicki2017 E Krupp2017 E Lim2017 E Wilfert2021 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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