Variant Results

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Results for "NPEPL1"

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
NPEPL1	SP0037672	chr20: 57290369-57290369	G	A	exonic			nonsynonymous SNV	NM_024663 NM_001204872 NM_001204873	c.G1559A c.G1475A c.G1415A	p.R520H p.R492H p.R472H	19.09	8.274E-5	Zhou2022 GE
NPEPL1	mAGRE4716	chr20: 57289642-57289643	TG	T	exonic		Maternal	frameshift deletion	NM_024663 NM_001204872 NM_001204873	c.1330delG c.1246delG c.1186delG	p.A444fs p.A416fs p.A396fs	-	-	Cirnigliaro2023 G
NPEPL1	SP0000406	chr20: 57287587-57287587	G	A	exonic		De novo	nonsynonymous SNV	NM_024663 NM_001204872 NM_001204873	c.G953A c.G869A c.G809A	p.G318E p.G290E p.G270E	18.57	-	Feliciano2019 E Fu2022 E Trost2022 G Zhou2022 GE
NPEPL1	Wang2023:735	chr20: 57268039-57268039	T	A	exonic		De novo	nonsynonymous SNV	NM_024663	c.T83A	p.L28Q	7.467	-	Wang2023 E
NPEPL1	111292	chr20: 57289091-57289091	C	T	exonic			nonsynonymous SNV	NM_024663 NM_001204872 NM_001204873	c.C1244T c.C1160T c.C1100T	p.P415L p.P387L p.P367L	29.4	-	Woodbury-Smith2022 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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