Variant Results

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Results for "LRMP"

Variant Events: 7

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
LRMP	iHART2154	chr12: 25232353-25232355	ACC	A	exonic		Maternal	frameshift deletion	NM_001204126 NM_001204127 NM_006152	c.94_95del c.94_95del c.94_95del	p.P32fs p.P32fs p.P32fs	-	6.59E-5	Ruzzo2019 G
LRMP	iHART2155	chr12: 25232353-25232355	ACC	A	exonic		Maternal	frameshift deletion	NM_001204126 NM_001204127 NM_006152	c.94_95del c.94_95del c.94_95del	p.P32fs p.P32fs p.P32fs	-	6.59E-5	Ruzzo2019 G
LRMP	AU183A	chr12: 25236440-25236440	G	A	intronic		De novo					-	2.0E-4	Kosmicki2017 E Satterstrom2020 E
LRMP	AU043A	chr12: 25256787-25256787	G	A	exonic		De novo	nonsynonymous SNV	NM_001204126 NM_001204127 NM_006152	c.G950A c.G950A c.G950A	p.R317K p.R317K p.R317K	17.76	8.25E-6	Lim2017 E
LRMP	DEASD_1014_001	chr12: 25232296-25232296	T	C	intronic		De novo					-	-	Satterstrom2020 E
LRMP	12463.p1	chr12: 25257411-25257411	G	C	intronic		De novo					-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
LRMP	1-0445-003	chr12: 25213434-25213434	C	T	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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