Variant Results

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Results for "ARNTL"

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
ARNTL	AU2123301	chr11: 13379288-13379288	G	A	intronic		De novo					-	-	Yuen2017 G
ARNTL	5-0055-004	chr11: 13332128-13332128	C	T	intronic		De novo					-	-	Yuen2017 G
ARNTL	20618-32410	chr11: 13387084-13387084	G	A	exonic		Inherited	nonsynonymous SNV	NM_001030272 NM_001297722 NM_001030273 NM_001178 NM_001297719 NM_001297724	c.G497A c.G497A c.G368A c.G497A c.G497A c.G368A	p.R166Q p.R166Q p.R123Q p.R166Q p.R166Q p.R123Q	36.0	-	Callaghan2019 G
ARNTL	1-0255-003	chr11: 13374133-13374133	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
ARNTL	AU061104	chr11: 13345433-13345433	G	C	intronic		De novo					-	-	Yuen2017 G
ARNTL	2-1093-005	chr11: 13310258-13310258	C	T	intronic		De novo					-	-	Yuen2017 G
ARNTL	iHART1121	chr11: 13387083-13387083	C	T	exonic		Maternal	stopgain	NM_001030272 NM_001297722 NM_001030273 NM_001178 NM_001297719 NM_001297724	c.C496T c.C496T c.C367T c.C496T c.C496T c.C367T	p.R166X p.R166X p.R123X p.R166X p.R166X p.R123X	41.0	-	Ruzzo2019 G
ARNTL	AU4263304	chr11: 13399902-13399906	ACCCC	ACCCCC	exonic		De novo	frameshift insertion	NM_001030272 NM_001297722 NM_001030273 NM_001178 NM_001297719 NM_001297724	c.1434dupC c.1437dupC c.1305dupC c.1434dupC c.1437dupC c.1308dupC	p.P478fs p.P479fs p.P435fs p.P478fs p.P479fs p.P436fs	-	-	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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