Variant Results

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Results for "KIF22"

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
KIF22	SP0097146	chr16: 29802316-29802316	C	T	UTR5		De novo					-	-	Fu2022 E Trost2022 G
KIF22	SP0040532	chr16: 29802065-29802065	C	T	UTR5		De novo					-	-	Fu2022 E Trost2022 G
KIF22	SP0017489	chr16: 29810834-29810834	A	C	intronic		De novo					-	-	Fu2022 E
KIF22	SP0005093	chr16: 29810834-29810834	A	C	intronic		De novo					-	-	Fu2022 E
KIF22	ASDFI_1650	chr16: 29816249-29816249	G	T	exonic			stopgain	NM_001256270 NM_007317 NM_001256269	c.G1588T c.G1792T c.G1588T	p.E530X p.E598X p.E530X	36.0	-	Doan2019 E
KIF22	SP0018370	chr16: 29814212-29814212	G	A	exonic		De novo	nonsynonymous SNV	NM_001256270 NM_007317 NM_001256269	c.G1199A c.G1403A c.G1199A	p.R400Q p.R468Q p.R400Q	22.4	4.118E-5	Fu2022 E Trost2022 G Zhou2022 GE
KIF22	1-0433-004	chr16: 29806161-29806161	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KIF22	1-0051-004	chr16: 29813047-29813047	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KIF22	SP0053825	chr16: 29809609-29809609	C	A	intronic		De novo					-	-	Trost2022 G
KIF22	mAGRE5348	chr16: 29810069-29810070	GT	G	splicing		Maternal	splicing				-	-	Cirnigliaro2023 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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