Variant Results

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Results for "BDKRB1"

Variant Events: 5

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
BDKRB1	Wang2023:447	chr14: 96730851-96730851	G	C	exonic		De novo	nonsynonymous SNV	NM_000710	c.G832C	p.V278L	0.049	-	Wang2023 E
BDKRB1	AU3861302	chr14: 96745649-96745649	T	C	intergenic		De novo					-	-	Yuen2017 G
BDKRB1	08C73977	chr14: 96730678-96730678	T	A	exonic		De novo	nonsynonymous SNV	NM_000710	c.T659A	p.F220Y	13.75	-	Fu2022 E
BDKRB1	2-1437-004	chr14: 96728495-96728495	C	G	intronic		De novo					-	-	Trost2022 G
BDKRB1	Ohashi2021:ASD-001	chr14: 96730422-96730422	C	T	exonic			nonsynonymous SNV	NM_000710	c.C403T	p.R135C	21.8	8.621E-5	Ohashi2021 ET

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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