Variant Results

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Results for "HAGH"

Variant Events: 8

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
HAGH	PN400538	chr16: 1867190-1867190	C	T	exonic		Unknown	stopgain	NM_001286249	c.G515A	p.W172X	9.947	0.0037	Leblond2019 E
HAGH	PN400215	chr16: 1867190-1867190	C	T	exonic		Unknown	stopgain	NM_001286249	c.G515A	p.W172X	9.947	0.0037	Leblond2019 E
HAGH	PN400115	chr16: 1867190-1867190	C	T	exonic		Unknown	stopgain	NM_001286249	c.G515A	p.W172X	9.947	0.0037	Leblond2019 E
HAGH	PN400470	chr16: 1867190-1867190	C	T	exonic		Unknown	stopgain	NM_001286249	c.G515A	p.W172X	9.947	0.0037	Leblond2019 E
HAGH	1-0677-003	chr16: 1869244-1869244	C	T	intronic		De novo					-	3.0E-4	Yuen2017 G
HAGH	PN400505	chr16: 1867190-1867190	C	T	exonic		Unknown	stopgain	NM_001286249	c.G515A	p.W172X	9.947	0.0037	Leblond2019 E
HAGH	JASD_Fam0035	chr16: 1866933-1866933	G	A	exonic		De novo	nonsynonymous SNV	NM_001286249	c.C599T	p.P200L	6.91	8.339E-6	Takata2018 E
HAGH	SP0088987	chr16: 1873073-1873073	C	T	intronic		De novo					-	2.504E-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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