Variant Results

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Results for "CD248"

Variant Events: 7

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
CD248	SP0014298	chr11: 66083465-66083465	G	A	exonic		De novo	nonsynonymous SNV	NM_020404	c.C1034T	p.A345V	16.84	-	Fu2022 E
CD248	152-HSC0079	chr11: 66082328-66082328	T	G	exonic		Inherited	nonsynonymous SNV	NM_020404	c.A2171C	p.D724A	17.24	5.891E-5	Patowary2019 E
CD248	SP0057357	chr11: 66084536-66084536	G	A	upstream		De novo					-	-	Fu2022 E
CD248	IGM10609	chr11: 66082351-66082351	A	G	exonic		De novo	synonymous SNV	NM_020404	c.T2148C	p.H716H	-	-	Fu2022 E Satterstrom2020 E
CD248	SP0055076	chr11: 66083215-66083215	G	T	exonic		De novo	synonymous SNV	NM_020404	c.C1284A	p.T428T	-	-	Fu2022 E
CD248	SP1704013_27	chr11: 66082208-66082208	G	A	UTR3		De novo					-	-	Fu2022 E
CD248	AU074403	chr11: 66081639-66081639	C	T	downstream		De novo					-	-	Yuen2017 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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