Variant Results

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Results for "EFHC1"

Variant Events: 10

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
EFHC1	DEASD_0308_001	chr6: 52285306-52285306	C	T	intronic		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
EFHC1	200675530_1082034224	chr6: 52355186-52355186	C	A	intronic		De novo					-	-	Fu2022 E
EFHC1	Shi2013:2	chr6: 52303274-52303274	G	A	exonic		Inherited	nonsynonymous SNV	NM_018100 NM_001172420	c.G458A c.G401A	p.R153Q p.R134Q	21.1	1.651E-5	Shi2013 G
EFHC1	Shi2013:1	chr6: 52303274-52303274	G	A	exonic		Inherited	nonsynonymous SNV	NM_018100 NM_001172420	c.G458A c.G401A	p.R153Q p.R134Q	21.1	1.651E-5	Shi2013 G
EFHC1	SP0000573	chr6: 52285232-52285232	C	T	exonic		De novo	synonymous SNV	NM_018100	c.C24T	p.G8G	-	-	Feliciano2019 E Fu2022 E
EFHC1	AU3911302	chr6: 52310767-52310767	T	G	intronic		De novo					-	-	Yuen2017 G
EFHC1	iHART2070	chr6: 52317558-52317558	C	T	exonic		Paternal	stopgain	NM_018100 NM_001172420	c.C646T c.C589T	p.R216X p.R197X	36.0	2.471E-5	Ruzzo2019 G
EFHC1	SP0085978	chr6: 52318278-52318278	A	G	intronic		De novo					-	-	Fu2022 E
EFHC1	AU2793302	chr6: 52289998-52289998	C	T	intronic		De novo					-	-	Yuen2017 G
EFHC1	14163.p1	chr6: 52317488-52317488	A	G	exonic		De novo	synonymous SNV	NM_018100 NM_001172420	c.A576G c.A519G	p.V192V p.V173V	-	-	Krumm2015 E 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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