Variant Results

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Results for "CD207"

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
CD207	SP0248763	chr2: 71058301-71058301	A	G	exonic		De novo	synonymous SNV	NM_015717	c.T867C	p.A289A	-	-	Trost2022 G
CD207	SP0073520	chr2: 71058111-71058111	G	T	UTR3		De novo					-	-	Fu2022 E
CD207	3-0391-000	chr2: 71104179-71104179	T	A	intergenic		De novo					-	-	Yuen2017 G
CD207	ASC_9107	chr2: 71060030-71060030	C	A	splicing		De novo	splicing				20.2	-	Fu2022 E
CD207	AU027506	chr2: 71065280-71065280	C	T	intergenic		De novo					-	-	Yuen2017 G
CD207	AU061003	chr2: 71073779-71073779	T	A	intergenic		De novo					-	-	Yuen2017 G
CD207	DEASD_0172_001	chr2: 71062628-71062628	C	T	exonic		De novo	nonsynonymous SNV	NM_015717	c.G184A	p.V62I	0.762	3.0E-4	DeRubeis2014 E Kosmicki2017 E Zhou2022 GE
CD207	iHART1672	chr2: 71060053-71060053	G	T	exonic		Paternal	stopgain	NM_015717	c.C695A	p.S232X	37.0	-	Ruzzo2019 G
CD207	mAGRE1672	chr2: 71060053-71060053	G	T	exonic		Paternal	stopgain	NM_015717	c.C695A	p.S232X	37.0	-	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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