Variant Results

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Results for "PRR14L"

Variant Events: 9

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
PRR14L	AU050704	chr22: 32109594-32109594	C	T	exonic		De novo	nonsynonymous SNV	NM_173566	c.G4231A	p.A1411T	14.02	-	Yuen2017 G
PRR14L	3-0075-000	chr22: 32112105-32112105	T	C	exonic		De novo	nonsynonymous SNV	NM_173566	c.A1720G	p.S574G	15.74	-	Tammimies2015 E
PRR14L	2-1454-003	chr22: 32108905-32108905	A	T	exonic		De novo	stopgain	NM_173566	c.T4920A	p.C1640X	44.0	-	Yuen2017 G
PRR14L	5-0138-003	chr22: 32148927-32148927	G	A	intergenic		De novo					-	-	Yuen2017 G
PRR14L	SJD_50.5	chr22: 32112483-32112483	G	A	exonic			stopgain	NM_173566	c.C1342T	p.Q448X	14.35	-	Antaki2022 GE
PRR14L	12680.p1	chr22: 32090733-32090733	G	A	intronic		De novo					-	-	Turner2016 G
PRR14L	AU2793303	chr22: 32101659-32101659	A	G	intronic		De novo					-	-	Yuen2017 G
PRR14L	SP0048900	chr22: 32112845-32112845	T	A	exonic		De novo	nonsynonymous SNV	NM_173566	c.A980T	p.H327L	0.313	-	Fu2022 E
PRR14L	80001102691	chr22: 32111363-32111363	A	AT	exonic		De novo	frameshift insertion	NM_173566	c.2461dupA	p.I821fs	-	-	Fu2022 E Satterstrom2020 E

Source Variant Information

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Paper Information

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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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