Variant Results

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Results for "ZNF3"

Variant Events: 8

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
ZNF3	11456.p1	chr7: 99668505-99668505	A	T	UTR3		De novo					-	-	Turner2016 G
ZNF3	SP0076021	Complex Event; expand row to view variants					De novo	nonsynonymous SNV, nonframeshift substitution	NM_001278291 NM_001278290 NM_001278292 NM_001278284 NM_001278287 NM_032924 NM_001278291 NM_001278290 NM_001278292 NM_001278284 NM_001278287 NM_032924 NM_001278291 NM_001278290 NM_001278292 NM_001278284 NM_001278287 NM_032924	c.A1157C c.A1265C c.A1157C c.A1265C c.A1265C c.A1265C c.A1156C c.A1264C c.A1156C c.A1264C c.A1264C c.A1264C c.1156_1157CC c.1264_1265CC c.1156_1157CC c.1264_1265CC c.1264_1265CC c.1264_1265CC	p.K386T p.K422T p.K386T p.K422T p.K422T p.K422T p.K386Q p.K422Q p.K386Q p.K422Q p.K422Q p.K422Q N/A N/A N/A N/A N/A N/A	14.93	-	Fu2022 E Trost2022 G Trost2022 G Zhou2022 GE
ZNF3	1-0219-003	chr7: 99669995-99669995	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ZNF3	1-0259-003	chr7: 99674193-99674194	AA	GC	intronic		De novo					-	-	Trost2022 G
ZNF3	2-0068-003	chr7: 99674070-99674072	CAT	TAC	intronic		De novo					-	-	Trost2022 G
ZNF3	1-0289-004	chr7: 99674070-99674072	CAT	TAC	intronic		De novo					-	-	Trost2022 G
ZNF3	MSSNG00360-003	chr7: 99663955-99663955	T	C	intronic		De novo					-	-	Trost2022 G
ZNF3	3-0066-001	chr7: 99671293-99671293	G	A	intronic		De novo					-	-	Trost2022 G

Source Variant Information

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Paper Information

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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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