Variant Results

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Results for "ZNF510"

Variant Events: 8

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
ZNF510	7-0369-003	chr9: 99536772-99536772	C	T	intronic		De novo					-	-	Trost2022 G
ZNF510	mAGRE1944	chr9: 99537130-99537130	T	C	splicing		Maternal	splicing				10.13	1.0E-4	Cirnigliaro2023 G
ZNF510	mAGRE2020	chr9: 99522256-99522256	C	A	exonic		Maternal	stopgain	NM_001314060 NM_001314059 NM_014930	c.G670T c.G856T c.G856T	p.E224X p.E286X p.E286X	40.0	-	Cirnigliaro2023 G
ZNF510	2-1364-003	chr9: 99536194-99536194	C	T	intronic		De novo					-	-	Yuen2017 G
ZNF510	mAGRE2017	chr9: 99522256-99522256	C	A	exonic		Maternal	stopgain	NM_001314060 NM_001314059 NM_014930	c.G670T c.G856T c.G856T	p.E224X p.E286X p.E286X	40.0	-	Cirnigliaro2023 G
ZNF510	72-1397	chr9: 99522256-99522256	C	A	exonic		Inherited	stopgain	NM_001314060 NM_001314059 NM_014930	c.G670T c.G856T c.G856T	p.E224X p.E286X p.E286X	40.0	-	Patowary2019 E
ZNF510	mAGRE2016	chr9: 99522256-99522256	C	A	exonic		Maternal	stopgain	NM_001314060 NM_001314059 NM_014930	c.G670T c.G856T c.G856T	p.E224X p.E286X p.E286X	40.0	-	Cirnigliaro2023 G
ZNF510	SJD_61.3	chr9: 99518530-99518530	C	A	UTR3		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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