Variant Results

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Results for "BPNT1"

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
BPNT1	mAGRE5486	chr1: 220247394-220247394	T	TGCAGGTCTGTTGC	exonic		Maternal	frameshift insertion	NM_001286150 NM_006085	c.139_140insGCAACAGACCTGC c.139_140insGCAACAGACCTGC	p.Q47fs p.Q47fs	-	-	Cirnigliaro2023 G
BPNT1	UK10K_SKUSE5080257	chr1: 220233081-220233081	C	A	exonic		De novo	nonsynonymous SNV	NM_001286149 NM_001286150 NM_001286151 NM_006085	c.G560T c.G617T c.G560T c.G725T	p.G187V p.G206V p.G187V p.G242V	25.9	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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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