Variant Results

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Results for "C16orf45"

Variant Events: 10

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
C16orf45	2-1184-003	chr16: 15681718-15681731	ATGTGTGTGTGTGT	ATGTGTGTGTGT	UTR3		De novo					-	-	Yuen2017 G
C16orf45	AU2410301	chr16: 15610722-15610722	A	G	intronic		De novo					-	-	Yuen2017 G
C16orf45	13748.p1	chr16: 15574307-15574307	C	T	intronic		De novo					-	-	Werling2018 G
C16orf45	1-0772-003	chr16: 15566454-15566455	TC	T	intronic		De novo					-	-	Yuen2017 G
C16orf45	iHART1883	chr16: 15675072-15675072	A	G	splicing		Maternal	splicing				22.2	2.0E-4	Ruzzo2019 G
C16orf45	iHART1884	chr16: 15675072-15675072	A	G	splicing		Maternal	splicing				22.2	2.0E-4	Ruzzo2019 G
C16orf45	1-0597-003	chr16: 15647819-15647819	G	T	intronic		De novo					-	-	Yuen2017 G
C16orf45	5-0133-003	chr16: 15656929-15656929	T	TTG	intronic		De novo					-	-	Yuen2017 G
C16orf45	2-1357-003	chr16: 15680686-15680686	G	A	exonic		De novo	synonymous SNV	NM_001142469 NM_033201	c.G564A c.G615A	p.X188X p.X205X	-	-	Yuen2015 G Yuen2017 G
C16orf45	7-0247-003	chr16: 15584438-15584438	C	A	intronic		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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