Variant Results

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Results for "CDC45"

Variant Events: 10

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
CDC45	5-0083-003	chr22: 19497355-19497355	G	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
CDC45	GX0112.p1	chr22: 19468525-19468525	G	A	exonic		Maternal	nonsynonymous SNV	NM_001178010 NM_001178011 NM_003504	c.G161A c.G161A c.G161A	p.G54E p.G54E p.G54E	32.0	1.0E-4	Guo2018 T
CDC45	AU025506	chr22: 19504369-19504369	C	T	exonic		Inherited	nonsynonymous SNV	NM_001178011 NM_003504 NM_001178010	c.C1451T c.C1589T c.C1685T	p.A484V p.A530V p.A562V	34.0	-	Stessman2017 T
CDC45	M17688	chr22: 19471511-19471511	C	A	exonic		Paternal	nonsynonymous SNV	NM_001178011 NM_001178010 NM_003504	c.C331A c.C469A c.C469A	p.R111S p.R157S p.R157S	31.0	-	Guo2018 T Wang2016 T
CDC45	Y9P9S	chr22: 19502333-19502333	C	T	exonic		Inherited	stopgain	NM_001178011 NM_003504 NM_001178010	c.C1141T c.C1279T c.C1375T	p.Q381X p.Q427X p.Q459X	39.0	-	Stessman2017 T
CDC45	4-0062-003	chr22: 19467775-19467775	C	G	intronic		De novo					-	-	Trost2022 G
CDC45	07C68916	chr22: 19483521-19483521	A	T	exonic		Unknown	nonsynonymous SNV	NM_001178011 NM_003504 NM_001178010	c.A422T c.A560T c.A656T	p.D141V p.D187V p.D219V	25.9	-	Stessman2017 T
CDC45	217-14352-4660	chr22: 19502486-19502486	A	G	splicing		Maternal	splicing				14.48	-	Stessman2017 T
CDC45	4-0085-003	chr22: 19470353-19470353	A	G	intronic		De novo					-	-	Trost2022 G Zhou2022 GE
CDC45	SP0128417	chr22: 19484986-19484986	G	A	intronic		De novo					-	2.472E-5	Fu2022 E Trost2022 G

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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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