Variant Results

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Results for "MARCH2"

Variant Events: 4

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
MARCH2	JASD_Fam0257	chr19: 8495673-8495673	G	T	exonic		De novo	synonymous SNV	NM_001005415 NM_016496	c.G504T c.G504T	p.R168R p.R168R	-	-	Takata2018 E
MARCH2	12529.p1	chr19: 8504052-8504052	A	G	downstream		De novo					-	-	Turner2016 G
MARCH2	SP0071648	chr19: 8503180-8503180	C	T	intronic		De novo					-	-	Fu2022 E
MARCH2	2-1529-003	chr19: 8507306-8507319	CAGAGAGAGAGAGA	CAGAGAGAGAGA	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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