Variant Results

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Results for "PGD"

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
PGD	SP0244373	chr1: 10460581-10460581	C	T	exonic		De novo	synonymous SNV	NM_001304451 NM_001304452 NM_002631	c.C216T c.C177T c.C216T	p.I72I p.I59I p.I72I	-	1.65E-5	Trost2022 G
PGD	REACH000671	chr1: 10458404-10458404	T	C	upstream		De novo					-	-	Trost2022 G
PGD	SP0028374	chr1: 10468123-10468123	C	T	intronic							-	1.648E-5	Zhou2022 GE
PGD	156-3925	chr1: 10479487-10479487	G	A	exonic		Inherited	nonsynonymous SNV	NM_001304451 NM_001304452 NM_002631	c.G1157A c.G1184A c.G1223A	p.R386Q p.R395Q p.R408Q	14.99	1.66E-5	Patowary2019 E
PGD	AU012804	chr1: 10462020-10462020	C	T	intronic		De novo					-	-	Yuen2017 G
PGD	1-0052-003	chr1: 10463541-10463541	G	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PGD	13733.p1	chr1: 10473286-10473286	C	T	exonic		De novo	synonymous SNV	NM_001304451 NM_001304452 NM_002631	c.C756T c.C783T c.C822T	p.Y252Y p.Y261Y p.Y274Y	-	2.479E-5	Iossifov2014 E Kosmicki2017 E O’Roak2012b E Wilfert2021 G Zhou2022 GE
PGD	4916	chr1: 10473286-10473286	C	T	exonic		De novo	synonymous SNV	NM_001304451 NM_001304452 NM_002631	c.C756T c.C783T c.C822T	p.Y252Y p.Y261Y p.Y274Y	-	2.479E-5	Fu2022 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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