Variant Results

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Results for "ESRP1"

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
ESRP1	1-0565-003	chr8: 95678206-95678207	AG	A	intronic		De novo					-	-	Yuen2017 G
ESRP1	AU3716302	chr8: 95721584-95721584	A	C	intergenic		De novo					-	-	Yuen2017 G
ESRP1	14073.p1	chr8: 95680394-95680394	A	C	exonic		De novo	synonymous SNV	NM_001034915 NM_001122825 NM_001122826 NM_001122827 NM_017697	c.A1149C c.A1149C c.A1149C c.A1149C c.A1149C	p.A383A p.A383A p.A383A p.A383A p.A383A	9.043	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
ESRP1	AU3874301	chr8: 95659989-95659989	T	G	intronic		De novo					-	-	Yuen2017 G
ESRP1	Lim2017:70476	chr8: 95680394-95680394	A	C	exonic		De novo	synonymous SNV	NM_001034915 NM_001122825 NM_001122826 NM_001122827 NM_017697	c.A1149C c.A1149C c.A1149C c.A1149C c.A1149C	p.A383A p.A383A p.A383A p.A383A p.A383A	9.043	-	Lim2017 E
ESRP1	14391.p1	chr8: 95729952-95729952	T	C	intergenic		De novo					-	-	Werling2018 G
ESRP1	AU3692301	chr8: 95695461-95695461	C	T	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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