Variant Results

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Results for "ABHD12B"

Variant Events: 6

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
ABHD12B	AU015903	chr14: 51355599-51355610	GTATCAATTATC	GTATC	exonic		De novo	frameshift deletion	NM_181814 NM_001206673	c.532_538del c.763_769del	p.N178fs p.N255fs	-	-	Yuen2017 G
ABHD12B	1-0186-005	chr14: 51340545-51340545	A	C	intronic		De novo					-	-	Yuen2017 G
ABHD12B	Shi2013:2	chr14: 51344693-51344693	T	C	exonic		Inherited	nonsynonymous SNV	NM_001206673	c.T128C	p.M43T	0.017	-	Shi2013 G
ABHD12B	Shi2013:1	chr14: 51344693-51344693	T	C	exonic		Inherited	nonsynonymous SNV	NM_001206673	c.T128C	p.M43T	0.017	-	Shi2013 G
ABHD12B	1-0493-003	chr14: 51341812-51341812	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
ABHD12B	iHART1448	chr14: 51347189-51347189	C	CG	exonic		Paternal	frameshift insertion	NM_181814 NM_001206673	c.125dupG c.356dupG	p.R42fs p.R119fs	-	-	Ruzzo2019 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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