Variant Results

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Results for "ALDH2"

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
ALDH2	1-0459-004	chr12: 112215165-112215165	G	A	intronic		De novo					-	-	Yuen2017 G
ALDH2	PN400114	chr12: 112221062-112221062	G	A	exonic		Unknown	nonsynonymous SNV	NM_000690	c.G320A	p.R107H	26.0	7.522E-5	Leblond2019 E
ALDH2	2-1186-003	chr12: 112233863-112233863	G	C	intronic		De novo					-	-	Yuen2017 G
ALDH2	13996.p1	chr12: 112236048-112236048	T	G	splicing		De novo	splicing				22.3	-	Wilfert2021 G
ALDH2	SP0028223	chr12: 112241723-112241723	G	A	exonic		De novo	synonymous SNV	NM_001204889 NM_000690	c.G1326A c.G1467A	p.G442G p.G489G	-	-	Fu2022 E
ALDH2	PN400279	chr12: 112221062-112221062	G	A	exonic		Unknown	nonsynonymous SNV	NM_000690	c.G320A	p.R107H	26.0	7.522E-5	Leblond2019 E
ALDH2	PN400369	chr12: 112221062-112221062	G	A	exonic		Unknown	nonsynonymous SNV	NM_000690	c.G320A	p.R107H	26.0	7.522E-5	Leblond2019 E
ALDH2	PN400489	chr12: 112221062-112221062	G	A	exonic		Unknown	nonsynonymous SNV	NM_000690	c.G320A	p.R107H	26.0	7.522E-5	Leblond2019 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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