Variant Results

or

or

Results for "PAK1IP1"

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
PAK1IP1	11726.p1	chr6: 10695304-10695304	T	G	splicing		De novo	splicing				16.29	-	Lim2017 E Turner2017 G Wilfert2021 G Zhou2022 GE
PAK1IP1	SP0161288	chr6: 10702732-10702732	G	A	intronic		De novo					-	-	Trost2022 G
PAK1IP1	1-0820-003	chr6: 10715266-10715266	A	G	intergenic		De novo					-	-	Yuen2017 G
PAK1IP1	AU008505	chr6: 10701775-10701775	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PAK1IP1	74-0672	chr6: 10705011-10705011	A	T	exonic		Inherited	nonsynonymous SNV	NM_017906	c.A674T	p.E225V	24.8	-	Patowary2019 E
PAK1IP1	mAGRE4949	chr6: 10702869-10702869	T	A	exonic		Paternal	stopgain	NM_017906	c.T440A	p.L147X	38.0	-	Cirnigliaro2023 G
PAK1IP1	mAGRE4948	chr6: 10702869-10702869	T	A	exonic		Paternal	stopgain	NM_017906	c.T440A	p.L147X	38.0	-	Cirnigliaro2023 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More