Variant Results

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Results for "BHLHE40"

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
BHLHE40	2-1508-003	chr3: 5154416-5154416	C	T	intergenic		De novo					-	-	Yuen2017 G
BHLHE40	AU4176302	chr3: 5040024-5040024	G	C	intergenic		De novo					-	-	Yuen2017 G
BHLHE40	1-0323-004	chr3: 5061630-5061630	T	C	intergenic		De novo					-	-	Yuen2017 G
BHLHE40	11C119380	chr17: 79980736-79980736	A	G	exonic		De novo	nonsynonymous SNV	NM_001271006 NM_001271007 NM_144998	c.T2C c.T2C c.T2C	p.M1T p.M1T p.M1T	15.35	1.0E-4	Fu2022 E
BHLHE40	2-1305-003	chr3: 5027638-5027638	T	G	downstream		De novo					-	-	Yuen2016 G Yuen2017 G
BHLHE40	2-1357-003	chr3: 5025306-5025306	T	G	exonic		De novo	nonsynonymous SNV	NM_003670	c.T1168G	p.S390A	0.562	-	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE
BHLHE40	AU3806304	chr3: 5100178-5100178	A	C	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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