Variant Results

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Results for "CAMK2G"

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
CAMK2G	SP0018878	chr10: 75575809-75575809	C	T	intronic		De novo					-	-	Fu2022 E Trost2022 G
CAMK2G	Mahjani2021:28	chr10: 75602268-75602268	C	T	exonic			nonsynonymous SNV	NM_001204492 NM_001222 NM_172169 NM_172170 NM_172171 NM_172173	c.G851A c.G851A c.G851A c.G851A c.G851A c.G851A	p.R284H p.R284H p.R284H p.R284H p.R284H p.R284H	36.0	-	Mahjani2021 E
CAMK2G	DEASD_0225_001	chr10: 75608997-75608997	C	T	intronic		De novo					-	1.0E-4	Satterstrom2020 E Trost2022 G
CAMK2G	MSSNG00437-004	chr10: 75604408-75604408	C	T	intronic		De novo					-	-	Trost2022 G
CAMK2G	7-0371-003	chr10: 75611989-75611989	G	A	intronic		De novo					-	-	Trost2022 G
CAMK2G	AU2029301	chr10: 75604363-75604363	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
CAMK2G	SP0097547	chr10: 75606936-75606936	G	A	intronic		De novo					-	-	Fu2022 E Trost2022 G
CAMK2G	SP0045624	chr10: 75613058-75613058	T	A	intronic		De novo					-	-	Fu2022 E
CAMK2G	2-1801-003	chr10: 75629012-75629012	T	C	intronic		De novo					-	-	Trost2022 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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