Variant Results

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Results for "BPHL"

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
BPHL	74-0081	chr6: 3140676-3140676	G	A	exonic		Inherited	nonsynonymous SNV	NM_004332 NM_001302777	c.G721A c.G670A	p.G241S p.G224S	25.2	4.119E-5	Patowary2019 E
BPHL	Cukier2014:7531	chr6: 3140676-3140676	G	A	exonic		Unknown	nonsynonymous SNV	NM_004332 NM_001302777	c.G721A c.G670A	p.G241S p.G224S	25.2	4.119E-5	Cukier2014 E
BPHL	AU3761301	chr6: 3151693-3151693	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
BPHL	Cukier2014:7531	chr6: 3152781-3152781	A	G	exonic		Unknown	nonsynonymous SNV	NM_004332 NM_001302777	c.A848G c.A797G	p.N283S p.N266S	21.9	0.002	Cukier2014 E
BPHL	SP0146130	chr6: 3129463-3129463	G	A	intronic		De novo					-	5.423E-5	Fu2022 E Trost2022 G
BPHL	1-0751-003	chr6: 3125050-3125050	A	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
BPHL	SP0025295	chr6: 3124040-3124040	A	G	intronic		De novo					-	6.0E-4	Fu2022 E
BPHL	12498.p1	chr6: 3126939-3126939	T	C	intronic		De novo					-	-	Turner2016 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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