Variant Results

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Results for "GRIN3B"

Variant Events: 7

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
GRIN3B	Cukier2014:37024	chr19: 1008645-1008645	C	A	exonic		Unknown	nonsynonymous SNV	NM_138690	c.C2495A	p.A832E	13.35	0.0102	Cukier2014 E
GRIN3B	36846	chr19: 1004896-1004896	G	GC	exonic		De novo	frameshift insertion	NM_138690	c.1396_1397insC	p.G466fs	-	1.706E-5	Fu2022 E
GRIN3B	12212.p1	chr19: 1004871-1004871	C	T	exonic		De novo	synonymous SNV	NM_138690	c.C1371T	p.D457D	-	2.0E-4	Iossifov2014 E Kosmicki2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G
GRIN3B	SP0108196	chr19: 1009612-1009612	G	A	UTR3		De novo					-	-	Fu2022 E
GRIN3B	Disecmas_010P	chr19: 1009185-1009191	GAGCAGC	G	exonic		De novo	nonframeshift deletion	NM_138690	c.2717_2722del	p.906_908del	-	-	Fu2022 E
GRIN3B	4891	chr19: 1004871-1004871	C	T	exonic		De novo	synonymous SNV	NM_138690	c.C1371T	p.D457D	-	2.0E-4	Fu2022 E
GRIN3B	14265.p1	chr19: 1004715-1004715	C	T	exonic		De novo	synonymous SNV	NM_138690	c.C1215T	p.P405P	-	9.164E-6	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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