Variant Results

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Results for "KIF2C"

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
KIF2C	2-1266-003	chr1: 45214051-45214051	C	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
KIF2C	SP0056650	chr1: 45216104-45216104	G	A	intronic		De novo					-	-	Fu2022 E
KIF2C	SP0106571	chr1: 45219479-45219484	TCTGAA	T	exonic		De novo	frameshift deletion	NM_001297655 NM_001297656 NM_001297657 NM_006845	c.515_519del c.476_480del c.299_303del c.638_642del	p.S172fs p.S159fs p.S100fs p.S213fs	-	-	Fu2022 E
KIF2C	111308	chr1: 45227607-45227607	G	A	exonic			nonsynonymous SNV	NM_001297655 NM_001297656 NM_001297657 NM_006845	c.G1580A c.G1541A c.G1364A c.G1703A	p.G527D p.G514D p.G455D p.G568D	31.0	-	Woodbury-Smith2022 E
KIF2C	3E475	chr1: 45218830-45218830	G	T	exonic		De novo	nonsynonymous SNV	NM_001297656 NM_001297657 NM_006845	c.G304T c.G127T c.G466T	p.A102S p.A43S p.A156S	10.36	-	Fu2022 E Satterstrom2020 E
KIF2C	12671.p1	chr1: 45216103-45216103	C	T	intronic		De novo					-	2.698E-5	Krumm2015 E Satterstrom2020 E
KIF2C	SP0117416	chr1: 45218749-45218749	T	G	intronic		De novo					-	-	Fu2022 E
KIF2C	1-0231-004	chr1: 45220053-45220053	G	C	intronic		De novo					-	-	Yuen2017 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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