Variant Results

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Results for "MDH1B"

Variant Events: 5

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
MDH1B	iHART1989	chr2: 207615723-207615724	TC	T	exonic		Maternal	frameshift deletion	NM_001039845 NM_001282940	c.986delG c.986delG	p.R329fs p.R329fs	-	-	Ruzzo2019 G
MDH1B	iHART1988	chr2: 207615723-207615724	TC	T	exonic		Maternal	frameshift deletion	NM_001039845 NM_001282940	c.986delG c.986delG	p.R329fs p.R329fs	-	-	Ruzzo2019 G
MDH1B	SP0013534	chr2: 207604331-207604331	A	G	exonic		De novo	nonsynonymous SNV	NM_001039845 NM_001282940	c.T1514C c.T1511C	p.L505P p.L504P	7.966	-	Fu2022 E
MDH1B	2-1363-003	chr2: 207625949-207625949	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
MDH1B	10C102323	chr2: 207621863-207621865	AAG	A	intronic		De novo					-	-	Neale2012 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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