Variant Results

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Results for "BHLHB9"

Variant Events: 2

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
BHLHB9	5-0128-003	chrX: 101990327-101990332	ATCTCT	ATCT	intronic		De novo					-	-	Yuen2017 G
BHLHB9	74-0672	chrX: 102004930-102004930	C	G	exonic		Inherited	nonsynonymous SNV	NM_001142530 NM_001142529 NM_030639 NM_001142524 NM_001142525 NM_001142526 NM_001142527 NM_001142528	c.C1007G c.C1007G c.C1007G c.C1007G c.C1007G c.C1007G c.C1007G c.C1007G	p.T336S p.T336S p.T336S p.T336S p.T336S p.T336S p.T336S p.T336S	11.37	-	Patowary2019 E

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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