Variant Results

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Results for "ESR2"

Variant Events: 3

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
ESR2	mAGRE1256	chr14: 64735552-64735552	G	A	exonic		Maternal	stopgain	NM_001214902 NM_001271876 NM_001271877 NM_001040275 NM_001291723 NM_001437 NM_001291712	c.C613T c.C613T c.C613T c.C613T c.C613T c.C613T c.C613T	p.R205X p.R205X p.R205X p.R205X p.R205X p.R205X p.R205X	41.0	8.247E-6	Cirnigliaro2023 G
ESR2	12517_p1	chr14: 64727389-64727389	T	C	exonic		De novo	nonsynonymous SNV	NM_001214902 NM_001271876 NM_001271877 NM_001040275 NM_001291723 NM_001437 NM_001291712	c.A730G c.A730G c.A730G c.A730G c.A730G c.A730G c.A730G	p.K244E p.K244E p.K244E p.K244E p.K244E p.K244E p.K244E	6.332	-	Fu2022 E
ESR2	iHART1256	chr14: 64735552-64735552	G	A	exonic		Maternal	stopgain	NM_001214902 NM_001271876 NM_001271877 NM_001040275 NM_001291723 NM_001437 NM_001291712	c.C613T c.C613T c.C613T c.C613T c.C613T c.C613T c.C613T	p.R205X p.R205X p.R205X p.R205X p.R205X p.R205X p.R205X	41.0	8.247E-6	Ruzzo2019 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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