Variant Results

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Results for "KIF7"

Variant Events: 7

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
KIF7	Li2017:15030	chr15: 90171847-90171847	G	A	exonic		Unknown	nonsynonymous SNV	NM_198525	c.C3835T	p.R1279C	20.8	2.521E-5	Li2017 T
KIF7	Hu2022:33	chr15: 90172650-90172653	TTCT	T	exonic		Unknown	nonframeshift deletion	NM_198525	c.3470_3472del	p.1157_1158del	-	-	Hu2022 T
KIF7	SP0120470	chr15: 90176141-90176141	C	G	exonic		De novo	nonsynonymous SNV	NM_198525	c.G2805C	p.E935D	11.83	-	Fu2022 E
KIF7	iHART2671	chr15: 90176938-90176949	GCTCATTTCTGC	G	exonic		Maternal	frameshift deletion	NM_198525	c.2560_2570del	p.A854fs	-	6.253E-5	Ruzzo2019 G
KIF7	iHART2670	chr15: 90176938-90176949	GCTCATTTCTGC	G	exonic		Maternal	frameshift deletion	NM_198525	c.2560_2570del	p.A854fs	-	6.253E-5	Ruzzo2019 G
KIF7	SP0087684	chr15: 90193186-90193186	G	A	intronic		De novo					-	-	Fu2022 E
KIF7	Li2017:16111	chr15: 90176958-90176958	G	A	exonic		Unknown	nonsynonymous SNV	NM_198525	c.C2551T	p.R851C	32.0	1.0E-4	Li2017 T

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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