Variant Results

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Results for "MOGS"

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
MOGS	NDAR_INVEX320NGB_wes1	chr2: 74689442-74689442	C	T	exonic		De novo	nonsynonymous SNV	NM_006302 NM_001146158	c.G1474A c.G1156A	p.D492N p.D386N	17.69	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
MOGS	SP0129828	chr2: 74689736-74689736	C	A	exonic		De novo	nonsynonymous SNV	NM_006302 NM_001146158	c.G1180T c.G862T	p.A394S p.A288S	20.8	-	Fu2022 E Trost2022 G Zhou2022 GE
MOGS	13949.p1	chr2: 74690033-74690034	CA	C	exonic			frameshift deletion	NM_006302 NM_001146158	c.882delT c.564delT	p.P294fs p.P188fs	-	4.988E-5	Zhou2022 GE
MOGS	SP0053565	chr2: 74689790-74689791	AG	A	exonic			frameshift deletion	NM_006302 NM_001146158	c.1125delC c.807delC	p.T375fs p.T269fs	-	-	Zhou2022 GE
MOGS	Al-Mubarak2017:ASD-24	chr2: 74690083-74690085	TTT	T	exonic		Unknown	frameshift deletion	NM_006302 NM_001146158	c.831_832del c.513_514del	p.V277fs p.V171fs	-	-	Al-Mubarak2017 E
MOGS	iHART1638	chr2: 74689153-74689153	G	GC	exonic		Paternal	frameshift insertion	NM_006302 NM_001146158	c.1762dupG c.1444dupG	p.A588fs p.A482fs	-	-	Ruzzo2019 G
MOGS	iHART1635	chr2: 74689153-74689153	G	GC	exonic		Paternal	frameshift insertion	NM_006302 NM_001146158	c.1762dupG c.1444dupG	p.A588fs p.A482fs	-	-	Ruzzo2019 G
MOGS	mAGRE1638	chr2: 74689153-74689153	G	GC	exonic		Paternal	frameshift insertion	NM_006302 NM_001146158	c.1762dupG c.1444dupG	p.A588fs p.A482fs	-	-	Cirnigliaro2023 G
MOGS	mAGRE1635	chr2: 74689153-74689153	G	GC	exonic		Paternal	frameshift insertion	NM_006302 NM_001146158	c.1762dupG c.1444dupG	p.A588fs p.A482fs	-	-	Cirnigliaro2023 G

Source Variant Information

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Paper Information

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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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