Variant Results

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Results for "CC2D1A"

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
CC2D1A	B0016	chr19: 14023982-14023982	C	T	exonic		Unknown	nonsynonymous SNV	NM_017721	c.C380T	p.P127L	11.3	8.123E-5	Xiong2019 ET
CC2D1A	B0016	chr19: 14040908-14040908	G	A	exonic		Unknown	nonsynonymous SNV	NM_017721	c.G2728A	p.E910K	24.0	1.0E-4	Xiong2019 ET
CC2D1A	12854.p1	chr19: 14031646-14031646	G	T	exonic		De novo	stopgain	NM_017721	c.G1552T	p.E518X	41.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CC2D1A	13968.p1	chr19: 14037607-14037607	G	A	intronic		Mosaic, De novo					-	-	Dou2017 E Iossifov2014 E Kosmicki2017 E
CC2D1A	12854_p1	chr19: 14031646-14031646	G	T	exonic		De novo	stopgain	NM_017721	c.G1552T	p.E518X	41.0	-	Fu2022 E
CC2D1A	13636.p1	chr19: 14034151-14034151	G	T	exonic			synonymous SNV	NM_017721	c.G1647T	p.P549P	-	-	Zhou2022 GE
CC2D1A	AU3905301	chr19: 14018272-14018272	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G

Source Variant Information

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Paper Information

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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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