Variant Results

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Results for "ZNF512"

Variant Events: 5

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
ZNF512	AU054303	chr2: 27805721-27805721	C	T	downstream;upstream		De novo					-	-	Yuen2017 G
ZNF512	AU4234302	chr2: 27808323-27808326	ATTT	ATT	intronic		De novo					-	-	Yuen2017 G
ZNF512	A52	chr2: 27838059-27838059	C	T	exonic		De novo	nonsynonymous SNV	NM_001271286 NM_001271287 NM_001271288 NM_001271289 NM_032434 NM_001271318	c.C1069T c.C925T c.C925T c.C841T c.C1156T c.C925T	p.P357S p.P309S p.P309S p.P281S p.P386S p.P309S	25.2	-	Jiao2019 E
ZNF512	2-1215-003	chr2: 27842129-27842129	G	A	intronic		De novo					-	-	Yuen2017 G
ZNF512	1-0458-005	chr2: 27822435-27822440	TGTATG	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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