Variant Results

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Results for "PDE4DIP"

Variant Events: 8

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
PDE4DIP	13160.p1	chr1: 144912131-144912132	TG	T	exonic		De novo	frameshift deletion	NM_001002811 NM_001002812 NM_001198834 NM_014644 NM_001198832	c.2632delC c.2143delC c.2143delC c.2143delC c.2341delC	p.Q878fs p.Q715fs p.Q715fs p.Q715fs p.Q781fs	-	-	Ji2016 E
PDE4DIP	3-0432-000	chr1: 144952082-144952082	T	A	UTR3		De novo					-	0.0189	Yuen2017 G
PDE4DIP	AU2109302	chr1: 144852435-144852435	G	A	exonic		De novo	synonymous SNV	NM_001198834	c.C7008T	p.C2336C	-	0.0049	Yuen2017 G
PDE4DIP	12939.p1	chr1: 144856852-144856852	C	T	exonic		De novo	synonymous SNV	NM_001198834 NM_014644 NM_001198832	c.G6633A c.G6633A c.G6315A	p.A2211A p.A2211A p.A2105A	5.637	0.0148	Iossifov2012 E
PDE4DIP	CC935.201	chr1: 144879548-144879548	T	C	exonic		De novo	nonsynonymous SNV	NM_001198834 NM_014644 NM_001198832	c.A3902G c.A3902G c.A3770G	p.N1301S p.N1301S p.N1257S	9.62	-	Lim2017 E
PDE4DIP	11031.p1	chr1: 145075903-145075903	C	T	UTR5		Mosaic					-	0.374	Dou2017 E
PDE4DIP	13518.p1	chr1: 144930883-144930883	C	G	exonic		Mosaic Mat.	nonsynonymous SNV	NM_001002811	c.G826C	p.D276H	10.7	-	Dou2017 E
PDE4DIP	SP0036741	chr1: 144946624-144946624	C	T	splicing		De novo, Mosaic	splicing				11.09	-	Feliciano2019 E Feliciano2019 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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