Variant Results

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Results for "PEX11G"

Variant Events: 10

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
PEX11G	12250.p1	chr19: 7542265-7542265	C	T	exonic		De novo	synonymous SNV	NM_001300881 NM_080662	c.G339A c.G549A	p.L113L p.L183L	-	-	Krumm2015 E Satterstrom2020 E Trost2022 G Zhou2022 GE
PEX11G	iHART3183	chr19: 7550897-7550897	A	AC	exonic		Paternal	frameshift insertion	NM_001270539 NM_080662	c.75dupG c.75dupG	p.Y26fs p.Y26fs	-	6.916E-5	Ruzzo2019 G
PEX11G	12250_p1	chr19: 7542265-7542265	C	T	exonic		De novo	synonymous SNV	NM_001300881 NM_080662	c.G339A c.G549A	p.L113L p.L183L	-	-	Fu2022 E
PEX11G	mAGRE5295	chr19: 7550897-7550897	A	AC	exonic		Paternal	frameshift insertion	NM_001270539 NM_080662	c.75dupG c.75dupG	p.Y26fs p.Y26fs	-	6.916E-5	Cirnigliaro2023 G
PEX11G	AU3777301	chr19: 7550897-7550897	A	AC	exonic		Paternal	frameshift insertion	NM_001270539 NM_080662	c.75dupG c.75dupG	p.Y26fs p.Y26fs	-	6.916E-5	Cirnigliaro2023 G
PEX11G	AU3764302	chr19: 7561421-7561421	G	A	intergenic		De novo					-	-	Yuen2017 G
PEX11G	SP0064914	chr19: 7550736-7550736	G	A	exonic		De novo	synonymous SNV	NM_001270539 NM_001300881 NM_080662	c.C237T c.C27T c.C237T	p.G79G p.G9G p.G79G	-	-	Fu2022 E Trost2022 G Zhou2022 GE
PEX11G	SP0028274	chr19: 7546989-7546989	C	T	exonic		De novo	nonsynonymous SNV	NM_001270539 NM_001300881 NM_080662	c.G358A c.G148A c.G358A	p.V120M p.V50M p.V120M	14.96	-	Fu2022 E Trost2022 G Zhou2022 GE
PEX11G	3-0307-000	chr19: 7543956-7543956	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PEX11G	3-0338-000	chr19: 7553881-7553881	C	A	exonic		De novo	nonsynonymous SNV	NM_001270539 NM_080662	c.G16T c.G16T	p.G6C p.G6C	18.07	-	Tammimies2015 E Trost2022 G Zhou2022 GE

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Paper Information

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