Variant Results

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Results for "POLG"

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
POLG	14565.p1	chr15: 89869940-89869946	ACTCCTC	A	exonic		De novo	nonframeshift deletion	NM_001126131 NM_002693	c.1609_1614del c.1609_1614del	p.537_538del p.537_538del	-	-	Iossifov2014 E Kosmicki2017 E
POLG	SP0076105	chr15: 89866043-89866043	C	T	exonic		De novo	nonsynonymous SNV	NM_001126131 NM_002693	c.G2356A c.G2356A	p.A786T p.A786T	13.85	-	Fu2022 E
POLG	AU-16201	chr15: 89862284-89862284	C	T	exonic			nonsynonymous SNV	NM_001126131 NM_002693	c.G3151A c.G3151A	p.G1051R p.G1051R	22.7	8.247E-6	Doan2019 E
POLG	AU3399302	chr15: 89867041-89867041	C	T	intronic		De novo					-	-	Yuen2017 G
POLG	7-0103-003	chr15: 89881231-89881231	T	A	intergenic		De novo					-	-	Yuen2017 G
POLG	1-0043-003	chr15: 89878302-89878302	C	T	upstream		De novo					-	-	Yuen2017 G
POLG	AU4269301	chr15: 89876837-89876837	T	G	exonic		De novo	nonsynonymous SNV	NM_001126131 NM_002693	c.A149C c.A149C	p.Q50P p.Q50P	0.134	-	Yuen2017 G
POLG	1-0051-004	chr15: 89878589-89878589	A	G	upstream		De novo					-	-	Yuen2017 G

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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