Variant Results

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Results for "POLH"

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
POLH	Cukier2014:7936	chr6: 43582176-43582176	C	A	exonic		Unknown	nonsynonymous SNV	NM_001291969 NM_006502	c.C1652A c.C2024A	p.S551Y p.S675Y	11.93	0.0018	Cukier2014 E
POLH	AU3727303	chr6: 43580831-43580831	G	A	intronic		De novo					-	-	Yuen2017 G
POLH	SP0018718	chr6: 43550770-43550770	G	A	exonic		De novo	nonsynonymous SNV	NM_001291969 NM_001291970 NM_006502	c.G10A c.G164A c.G164A	p.V4M p.R55H p.R55H	36.0	3.336E-5	Feliciano2019 E
POLH	AU4145301	chr6: 43563811-43563811	T	C	intronic		De novo					-	-	Yuen2017 G
POLH	2-1406-003	chr6: 43545163-43545163	G	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
POLH	AU066403	chr6: 43578581-43578583	CAT	C	intronic		De novo					-	-	Yuen2017 G
POLH	SSC00250	chr6: 43582216-43582216	T	C	exonic		De novo	synonymous SNV	NM_001291969 NM_006502	c.T1692C c.T2064C	p.P564P p.P688P	-	-	Lim2017 E
POLH	11454.p1	chr6: 43582216-43582216	T	C	exonic		De novo	synonymous SNV	NM_001291969 NM_006502	c.T1692C c.T2064C	p.P564P p.P688P	-	-	Krumm2015 E Satterstrom2020 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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