Variant Results

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Results for "ZNF839"

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
ZNF839	mAGRE2820	chr14: 102798097-102798097	C	T	exonic		Paternal	stopgain	NM_001267827 NM_001267828 NM_018335	c.C982T c.C982T c.C1330T	p.Q328X p.Q328X p.Q444X	13.99	-	Cirnigliaro2023 G
ZNF839	SP0087001	chr14: 102808049-102808049	G	A	exonic		De novo	nonsynonymous SNV	NM_001267827 NM_001267828 NM_018335	c.G1969A c.G1969A c.G2317A	p.G657S p.G657S p.G773S	3.395	3.333E-5	Fu2022 E Trost2022 G Zhou2022 GE
ZNF839	REACH000671	chr14: 102805063-102805063	A	T	intronic		De novo					-	-	Trost2022 G
ZNF839	2-1238-003	chr14: 102789576-102789576	T	TACTGGCATCTAG	intronic		De novo					-	-	Trost2022 G
ZNF839	MSSNG00053-003	chr14: 102789721-102789724	CATT	C	intronic		De novo					-	-	Trost2022 G
ZNF839	SP0205735	chr14: 102786257-102786260	AGCC	A	exonic		De novo	nonframeshift deletion	NM_018335	c.156_158del	p.52_53del	-	0.0022	Trost2022 G
ZNF839	AM01ZF-04	chr14: 102786852-102786852	C	T	intronic		De novo					-	-	Trost2022 G
ZNF839	iHART2820	chr14: 102798097-102798097	C	T	exonic		Paternal	stopgain	NM_001267827 NM_001267828 NM_018335	c.C982T c.C982T c.C1330T	p.Q328X p.Q328X p.Q444X	13.99	-	Ruzzo2019 G
ZNF839	AU200A	chr14: 102808176-102808176	A	C	exonic		De novo	nonsynonymous SNV	NM_001267827 NM_001267828 NM_018335	c.A2096C c.A2096C c.A2444C	p.Y699S p.Y699S p.Y815S	3.773	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ZNF839	2-0068-003	chr14: 102803943-102803943	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G

Source Variant Information

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Paper Information

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