Variant Results

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Results for "ZNF337"

Variant Events: 10

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
ZNF337	AU030804	chr20: 25694510-25694510	A	G	intergenic		De novo					-	-	Yuen2017 G
ZNF337	SSC04978	chr20: 25656070-25656070	G	A	exonic		De novo	synonymous SNV	NM_001290261 NM_015655	c.C1854T c.C1854T	p.H618H p.H618H	-	-	Fu2022 E Lim2017 E Trost2022 G
ZNF337	2-1430-003	chr20: 25741719-25741719	G	A	intergenic		De novo					-	-	Yuen2017 G
ZNF337	MSSNG00098-003	chr20: 25657533-25657533	C	A	exonic		De novo	nonsynonymous SNV	NM_001290261 NM_015655	c.G391T c.G391T	p.A131S p.A131S	4.263	-	Trost2022 G Zhou2022 GE
ZNF337	mAGRE4346	chr20: 25656884-25656895	GGCTTCTCTCCT	G	exonic		Maternal	frameshift deletion	NM_001290261 NM_015655	c.1029_1039del c.1029_1039del	p.S343fs p.S343fs	-	-	Cirnigliaro2023 G
ZNF337	REACH000653	chr20: 25666162-25666162	C	T	intronic		De novo					-	8.321E-6	Trost2022 G
ZNF337	5-1009-003	chr20: 25661176-25661176	G	C	intronic		De novo					-	-	Trost2022 G
ZNF337	iHART1268	chr20: 25657113-25657113	G	A	exonic		Paternal	stopgain	NM_001290261 NM_015655	c.C811T c.C811T	p.R271X p.R271X	23.5	7.415E-5	Ruzzo2019 G
ZNF337	12550.p1	chr20: 25656070-25656070	G	A	exonic		De novo	synonymous SNV	NM_001290261 NM_015655	c.C1854T c.C1854T	p.H618H p.H618H	-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
ZNF337	mAGRE1268	chr20: 25657113-25657113	G	A	exonic		Paternal	stopgain	NM_001290261 NM_015655	c.C811T c.C811T	p.R271X p.R271X	23.5	7.415E-5	Cirnigliaro2023 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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