Variant Results

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Results for "MCM8"

Variant Events: 9

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
MCM8	AU4168306	chr20: 5968232-5968232	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
MCM8	SP0088993	chr20: 5948254-5948254	T	C	intronic		De novo					-	-	Fu2022 E
MCM8	2-1475-003	chr20: 5948123-5948123	G	A	exonic		De novo	nonsynonymous SNV	NM_001281520 NM_001281521 NM_001281522 NM_032485 NM_182802	c.G917A c.G917A c.G917A c.G917A c.G917A	p.R306Q p.R306Q p.R306Q p.R306Q p.R306Q	33.0	4.119E-5	Trost2022 G Yuen2017 G Zhou2022 GE
MCM8	5-1003-003	chr20: 5956129-5956129	T	A	intronic		De novo					-	-	Trost2022 G
MCM8	3-0785-000	chr20: 5937503-5937503	A	G	intronic		De novo					-	-	Trost2022 G
MCM8	mAGRE6196	chr20: 5952681-5952685	GAAGT	G	exonic		Paternal	frameshift deletion	NM_001281520 NM_001281522 NM_032485 NM_182802	c.1253_1254del c.1253_1254del c.1253_1254del c.1205_1206del	p.E418fs p.E418fs p.E418fs p.E402fs	-	-	Cirnigliaro2023 G
MCM8	MSSNG00218-003	chr20: 5943963-5943963	G	A	exonic		De novo	nonsynonymous SNV	NM_001281520 NM_001281521 NM_001281522 NM_032485 NM_182802	c.G833A c.G833A c.G833A c.G833A c.G833A	p.R278H p.R278H p.R278H p.R278H p.R278H	9.626	1.648E-5	Trost2022 G Zhou2022 GE
MCM8	AU4379301	Complex Event; expand row to view variants					De novo					-	-	Trost2022 G Yuen2017 G
MCM8	3-0338-000	chr20: 5933076-5933076	C	T	exonic		De novo	nonsynonymous SNV	NM_001281520 NM_001281521 NM_001281522 NM_032485 NM_182802	c.C155T c.C155T c.C155T c.C155T c.C155T	p.T52I p.T52I p.T52I p.T52I p.T52I	11.09	8.315E-6	Tammimies2015 E

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Paper Information

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