Variant Results

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Results for "ABHD1"

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
ABHD1	iHART2666	chr2: 27351823-27351823	C	T	exonic		Maternal	stopgain	NM_032604	c.C286T	p.Q96X	16.22	2.488E-5	Ruzzo2019 G
ABHD1	SP0073249	chr2: 27351318-27351318	C	A	exonic		De novo	nonsynonymous SNV	NM_032604	c.C124A	p.L42M	14.81	-	Fu2022 E Trost2022 G Zhou2022 GE
ABHD1	SP0141052	chr2: 27346821-27346821	T	G	exonic		De novo	nonsynonymous SNV	NM_032604	c.T5G	p.L2R	23.3	-	Fu2022 E
ABHD1	11C120770	chr2: 27351990-27351990	C	T	exonic		De novo	synonymous SNV	NM_032604	c.C453T	p.G151G	-	-	Lim2017 E
ABHD1	iHART2667	chr2: 27351823-27351823	C	T	exonic		Maternal	stopgain	NM_032604	c.C286T	p.Q96X	16.22	2.488E-5	Ruzzo2019 G
ABHD1	mAGRE4877	chr2: 27352230-27352230	G	C	splicing		Paternal	splicing				11.65	1.0E-4	Cirnigliaro2023 G
ABHD1	mAGRE2667	chr2: 27351823-27351823	C	T	exonic		Maternal	stopgain	NM_032604	c.C286T	p.Q96X	16.22	2.488E-5	Cirnigliaro2023 G
ABHD1	mAGRE2666	chr2: 27351823-27351823	C	T	exonic		Maternal	stopgain	NM_032604	c.C286T	p.Q96X	16.22	2.488E-5	Cirnigliaro2023 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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