Variant Results

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Results for "CDKN1C"

Variant Events: 3

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
CDKN1C	SP0125430	chr11: 2906433-2906433	T	C	exonic		De novo	nonsynonymous SNV	NM_000076 NM_001122630 NM_001122631	c.A287G c.A254G c.A254G	p.Q96R p.Q85R p.Q85R	17.65	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
CDKN1C	SP0113642	chr11: 2905822-2905822	C	A	intronic		De novo					-	-	Fu2022 E
CDKN1C	2-1760-003	chr11: 2906647-2906647	C	T	exonic		De novo	nonsynonymous SNV	NM_000076 NM_001122630 NM_001122631	c.G73A c.G40A c.G40A	p.V25M p.V14M p.V14M	11.63	5.278E-5	Trost2022 G Zhou2022 GE

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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