Variant Results

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Results for "GEMIN5"

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
GEMIN5	SP0061824	chr5: 154271892-154271893	TG	T	intronic		De novo					-	-	Fu2022 E
GEMIN5	SP0077637	chr5: 154299529-154299529	T	C	exonic		De novo	nonsynonymous SNV	NM_001252156 NM_015465	c.A1594G c.A1597G	p.K532E p.K533E	15.72	-	Fu2022 E
GEMIN5	2-1526-003	chr5: 154282753-154282753	C	CA	intronic		De novo					-	1.666E-5	Yuen2017 G
GEMIN5	SP0029214	chr5: 154282228-154282228	G	A	exonic		De novo	nonsynonymous SNV	NM_001252156 NM_015465	c.C2734T c.C2737T	p.H912Y p.H913Y	26.8	-	Fu2022 E
GEMIN5	10C110253	chr5: 154308038-154308038	A	G	intronic		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
GEMIN5	2-1452-003	chr5: 154305035-154305035	T	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
GEMIN5	2-1357-004	chr5: 154306472-154306485	AGGTGATACACGCC	A	intronic		De novo					-	-	Yuen2017 G
GEMIN5	Cukier2014:17678	chr5: 154307070-154307070	G	C	exonic		Unknown	nonsynonymous SNV	NM_001252156 NM_015465	c.C952G c.C955G	p.R318G p.R319G	28.4	0.0198	Cukier2014 E
GEMIN5	AU071203	chr5: 154297888-154297891	TAAA	TAAAA	intronic		De novo					-	-	Yuen2017 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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