Variant Results

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Results for "ABHD11"

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
ABHD11	AU4056301	chr7: 73157294-73157294	C	T	intergenic		De novo					-	-	Yuen2017 G
ABHD11	12568.p1	chr7: 73171577-73171577	T	C	intergenic		De novo					-	-	Turner2016 G
ABHD11	SJD_10	chr7: 73150986-73150986	G	A	exonic		Paternal	nonsynonymous SNV	NM_001145364 NM_148912 NM_148913	c.C680T c.C851T c.C830T	p.P227L p.P284L p.P277L	25.1	-	Toma2013 E
ABHD11	SP0126519	chr7: 73152986-73152986	C	G	exonic		De novo	nonsynonymous SNV	NM_001145364 NM_001301058 NM_148912 NM_148913	c.G142C c.G142C c.G142C c.G142C	p.A48P p.A48P p.A48P p.A48P	15.59	-	Trost2022 G
ABHD11	12568.p1	chr7: 73171593-73171593	C	T	intergenic		De novo					-	-	Turner2016 G
ABHD11	1-0299-003	chr7: 73160887-73160887	C	CACCT	intergenic		De novo					-	-	Yuen2017 G
ABHD11	5-0040-003	chr7: 73160887-73160887	C	CACCT	intergenic		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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