Variant Results

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Results for "ZNF74"

Variant Events: 6

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
ZNF74	SP0018718	chr22: 20749663-20749663	T	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_003426 NM_001256524	c.T75A c.T75A	p.N25K p.N25K	14.77	-	Feliciano2019 E Feliciano2019 E
ZNF74	AU3905302	chr22: 20768137-20768137	T	C	intergenic		De novo					-	-	Yuen2017 G
ZNF74	658-05-104770	chr22: 20761174-20761174	C	T	exonic		De novo	synonymous SNV	NM_001256525 NM_003426 NM_001256524	c.C1638T c.C1851T c.C1851T	p.D546D p.D617D p.D617D	-	5.0E-5	Fu2022 E Satterstrom2020 E
ZNF74	156-3925	chr22: 20761112-20761112	T	A	exonic		Inherited	nonsynonymous SNV	NM_001256525 NM_003426 NM_001256524	c.T1576A c.T1789A c.T1789A	p.Y526N p.Y597N p.Y597N	12.52	0.0035	Patowary2019 E
ZNF74	3-0438-000	chr22: 20771901-20771901	C	T	intergenic		De novo					-	-	Yuen2016 G
ZNF74	08C75317	chr22: 20760862-20760862	G	T	exonic		De novo	synonymous SNV	NM_001256525 NM_003426 NM_001256524	c.G1326T c.G1539T c.G1539T	p.S442S p.S513S p.S513S	-	-	Fu2022 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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