Variant Results

or

or

Results for "ATAD3B"

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
ATAD3B	mAGRE4436	chr1: 1421968-1421968	C	CG	exonic		Paternal	frameshift insertion	NM_001317238 NM_031921	c.997dupG c.1135dupG	p.G332fs p.G378fs	-	-	Cirnigliaro2023 G
ATAD3B	mAGRE1713	chr1: 1407404-1407404	G	A	exonic		Maternal	stopgain	NM_031921	c.G140A	p.W47X	38.0	-	Cirnigliaro2023 G
ATAD3B	7-0017-003A	chr1: 1424795-1424795	G	A	intronic		De novo					-	-	Trost2022 G
ATAD3B	MSSNG00096-003	chr1: 1422209-1422209	C	T	intronic		De novo					-	-	Trost2022 G
ATAD3B	iHART1713	chr1: 1407404-1407404	G	A	exonic		Maternal	stopgain	NM_031921	c.G140A	p.W47X	38.0	-	Ruzzo2019 G
ATAD3B	UK10K_SKUSE5080252	chr1: 1423250-1423250	C	T	exonic		De novo	nonsynonymous SNV	NM_001317238 NM_031921	c.C1084T c.C1222T	p.L362F p.L408F	13.49	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ATAD3B	JASD_Fam0103	chr1: 1425957-1425957	C	T	exonic		De novo	nonsynonymous SNV	NM_001317238 NM_031921	c.C1382T c.C1520T	p.A461V p.A507V	7.449	-	Takata2018 E
ATAD3B	AU2137304	chr1: 1444979-1444979	C	G	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More