Variant Results

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Results for "PXK"

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
PXK	1-1004-003	chr3: 58364459-58364459	C	A	intronic		De novo					-	-	Yuen2017 G
PXK	3-0307-000	chr3: 58408523-58408523	A	C	intronic		De novo					-	-	Yuen2017 G
PXK	3-0442-000	chr3: 58354679-58354679	G	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
PXK	15210-25677	chr3: 58398647-58398657	ACCTCTCACGT	A	exonic			frameshift deletion	NM_001289101 NM_001289096 NM_001289100 NM_001289095 NM_001289098 NM_001289099 NM_017771	c.1075_1084del c.1387_1396del c.1387_1396del c.1432_1441del c.1486_1495del c.1237_1246del c.1486_1495del	p.P359fs p.P463fs p.P463fs p.P478fs p.P496fs p.P413fs p.P496fs	-	-	Callaghan2019 G
PXK	SP0064457	chr3: 58406255-58406255	G	A	intronic		De novo					-	-	Fu2022 E
PXK	PN400352	chr3: 58409192-58409193	CT	C	exonic		Unknown	stopgain	NM_001289095	c.1480delT	p.L494X	-	-	Leblond2019 E

Source Variant Information

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Paper Information

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