Variant Results

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Results for "FAM83C"

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
FAM83C	11258.p1	chr20: 33875372-33875372	C	T	exonic		De novo	nonsynonymous SNV	NM_178468	c.G1210A	p.G404S	6.482	1.656E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E
FAM83C	11258_p1	chr20: 33875372-33875372	C	T	exonic		De novo	nonsynonymous SNV	NM_178468	c.G1210A	p.G404S	6.482	1.656E-5	Fu2022 E
FAM83C	12690_p1	chr20: 33874988-33874988	C	A	exonic		De novo	nonsynonymous SNV	NM_178468	c.G1594T	p.G532C	2.266	-	Fu2022 E
FAM83C	A20	chr20: 33875962-33875962	T	TGGCACACGGC	intronic		De novo					-	-	Wu2018 G
FAM83C	98HI0554A	chr20: 33875159-33875159	C	T	exonic		De novo	nonsynonymous SNV	NM_178468	c.G1423A	p.E475K	9.867	-	Fu2022 E Satterstrom2020 E
FAM83C	74-0672	chr20: 33879743-33879743	T	C	exonic		Inherited	nonsynonymous SNV	NM_178468	c.A365G	p.D122G	17.8	8.269E-6	Patowary2019 E
FAM83C	SP0145834	chr20: 33875565-33875565	C	T	exonic		De novo	synonymous SNV	NM_178468	c.G1017A	p.T339T	-	6.179E-5	Fu2022 E

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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