Variant Results

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Results for "PNN"

Variant Events: 10

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
PNN	SP0087342	chr14: 39651046-39651046	C	T	exonic		De novo	synonymous SNV	NM_002687	c.C2133T	p.D711D	-	-	Fu2022 E Trost2022 G Zhou2022 GE
PNN	AU1995302	chr14: 39695451-39695451	G	A	intergenic		De novo					-	-	Yuen2017 G
PNN	mAGRE2845	chr14: 39650999-39650999	C	T	exonic		Paternal	stopgain	NM_002687	c.C2086T	p.R696X	37.0	-	Cirnigliaro2023 G
PNN	mAGRE4617	chr14: 39650975-39650977	AAG	A	exonic		Maternal	frameshift deletion	NM_002687	c.2063_2064del	p.K688fs	-	-	Cirnigliaro2023 G
PNN	3-0309-000	chr14: 39646291-39646291	A	AT	intronic		De novo					-	-	Trost2022 G
PNN	2-1617-003	chr14: 39649558-39649558	G	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PNN	iHART2845	chr14: 39650999-39650999	C	T	exonic		Paternal	stopgain	NM_002687	c.C2086T	p.R696X	37.0	-	Ruzzo2019 G
PNN	SP0032686	chr14: 39649856-39649856	C	T	exonic		De novo	stopgain	NM_002687	c.C943T	p.R315X	21.9	-	Fu2022 E Trost2022 G Zhou2022 GE
PNN	SP0052503	chr14: 39650525-39650525	A	T	exonic		De novo	nonsynonymous SNV	NM_002687	c.A1612T	p.T538S	2.812	-	Fu2022 E Trost2022 G Zhou2022 GE
PNN	SP0045838	chr14: 39650348-39650348	C	T	exonic		De novo	stopgain	NM_002687	c.C1435T	p.Q479X	9.909	-	Fu2022 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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