Variant Results

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Results for "KIF11"

Variant Events: 6

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
KIF11	18436-29827	chr10: 94408018-94408018	C	G	exonic			stopgain	NM_004523	c.C2597G	p.S866X	22.1	-	Callaghan2019 G
KIF11	AU4032307	chr10: 94355977-94355977	G	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KIF11	SP0007514	chr10: 94410283-94410283	T	C	intronic		De novo					-	-	Fu2022 E
KIF11	2-1437-004	chr10: 94416988-94416988	C	T	intergenic		De novo					-	-	Yuen2017 G
KIF11	AU2525302	chr10: 94445309-94445309	C	T	intergenic		De novo					-	-	Yuen2017 G
KIF11	2-0122-003	chr10: 94373233-94373234	AG	A	exonic		De novo	frameshift deletion	NM_004523	c.890delG	p.R297fs	-	-	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE

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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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