Variant Results

or

or

Results for "INPP5F"

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
INPP5F	iHART1416	chr10: 121564897-121564897	C	T	exonic		Paternal	stopgain	NM_014937	c.C1243T	p.R415X	39.0	4.971E-5	Ruzzo2019 G
INPP5F	14642.p1	chr10: 121525297-121525297	A	G	intronic		De novo					-	-	Turner2016 G
INPP5F	iHART2576	chr10: 121582675-121582675	C	T	exonic		Maternal	stopgain	NM_001243194 NM_014937	c.C295T c.C2125T	p.R99X p.R709X	38.0	-	Ruzzo2019 G
INPP5F	13964.p1	chr10: 121588215-121588215	T	C	UTR3		De novo					-	-	Turner2016 G
INPP5F	iHART2578	chr10: 121582675-121582675	C	T	exonic		Maternal	stopgain	NM_001243194 NM_014937	c.C295T c.C2125T	p.R99X p.R709X	38.0	-	Ruzzo2019 G
INPP5F	SP0032180	chr10: 121485775-121485775	A	G	exonic		De novo	nonsynonymous SNV	NM_001243195 NM_014937	c.A1G c.A1G	p.M1V p.M1V	22.9	5.819E-5	Fu2022 E
INPP5F	GEA364	chr10: 121551497-121551497	C	T	exonic		De novo	synonymous SNV	NM_001243195 NM_014937	c.C561T c.C561T	p.S187S p.S187S	-	-	Fu2022 E
INPP5F	AU4479301	chr10: 121564063-121564063	C	T	intronic		De novo					-	-	Yuen2017 G
INPP5F	iHART3123	chr10: 121586240-121586241	TC	T	exonic		Paternal	frameshift deletion	NM_001243194 NM_014937	c.518delC c.2348delC	p.S173fs p.S783fs	-	-	Ruzzo2019 G
INPP5F	3-0186-000	chr10: 121579002-121579002	C	G	exonic		De novo	nonsynonymous SNV	NM_001243194	c.C7G	p.H3D	13.96	-	Tammimies2015 E

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