Variant Results

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Results for "ZNF311"

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
ZNF311	SP0109909	chr6: 28963975-28963975	A	T	exonic		De novo	synonymous SNV	NM_001010877	c.T804A	p.I268I	-	-	Fu2022 E
ZNF311	1-0558-003	chr6: 29002024-29002024	C	T	intergenic		De novo					-	-	Yuen2017 G
ZNF311	1-0756-005	chr6: 28983864-28983864	C	T	intergenic		De novo					-	-	Yuen2017 G
ZNF311	10C104461	chr6: 28963322-28963322	C	T	exonic		De novo	nonsynonymous SNV	NM_001010877	c.G1457A	p.R486H	17.48	2.0E-4	DeRubeis2014 E Kosmicki2017 E Neale2012 E Satterstrom2020 E
ZNF311	NP044	chr6: 28967406-28967406	C	T	intronic		De novo					-	-	Satterstrom2020 E
ZNF311	LM-C004-C	chr6: 28967496-28967496	G	C	intronic		De novo					-	-	Fu2022 E
ZNF311	3035_17au	chr6: 28963615-28963615	T	C	exonic		De novo	synonymous SNV	NM_001010877	c.A1164G	p.E388E	-	-	Fu2022 E
ZNF311	1-0914-003	chr6: 28987095-28987095	A	C	intergenic		De novo					-	-	Yuen2017 G
ZNF311	SP0013981	chr6: 28963130-28963130	G	A	exonic		De novo	nonsynonymous SNV	NM_001010877	c.C1649T	p.T550I	13.56	-	Feliciano2019 E Fu2022 E
ZNF311	MT_109	chr6: 28962881-28962882	TT	T	exonic		Paternal	frameshift deletion	NM_001010877	c.1897delA	p.K633fs	-	-	Toma2013 E

Source Variant Information

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Paper Information

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