Variant Results

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Results for "ZNF786"

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
ZNF786	1-0253-004	chr7: 148778898-148778902	CTGTT	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ZNF786	13279.p1	chr7: 148777718-148777718	A	G	exonic		De novo	nonsynonymous SNV	NM_152411	c.T110C	p.V37A	13.88	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
ZNF786	SP0074595	chr7: 148769329-148769329	C	T	exonic		De novo	nonsynonymous SNV	NM_152411	c.G535A	p.V179I	4.393	-	Fu2022 E Trost2022 G Zhou2022 GE
ZNF786	13279_p1	chr7: 148777718-148777718	A	G	exonic		De novo	nonsynonymous SNV	NM_152411	c.T110C	p.V37A	13.88	-	Fu2022 E
ZNF786	mAGRE5905	chr7: 148767540-148767544	GCAAA	G	exonic		Maternal	frameshift deletion	NM_152411	c.2320_2323del	p.F774fs	-	-	Cirnigliaro2023 G
ZNF786	AU3885304	chr7: 148780090-148780090	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ZNF786	2-1487-003	chr7: 148770331-148770331	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ZNF786	SP0240506	chr7: 148768651-148768651	G	A	exonic		De novo	nonsynonymous SNV	NM_152411	c.C1213T	p.R405C	10.78	9.371E-6	Trost2022 G
ZNF786	1-1006-003A	chr7: 148786435-148786436	CT	C	intronic		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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