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Results for "INPP5F"

Variant Events: 27

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     3-0186-000chr10:
121579002-121579002
CGexonicDe novononsynonymous SNVNM_001243194c.C7Gp.H3D13.96-Tammimies2015 E
INPP5F     AU004403chr10:
121496257-121496257
CAintronicDe novo--Trost2022 G
INPP5F     iHART1416chr10:
121564897-121564897
CTexonicPaternalstopgainNM_014937c.C1243Tp.R415X39.04.971E-5Ruzzo2019 G
INPP5F     2-0289-004chr10:
121545196-121545196
CAintronicDe novo--Trost2022 G
INPP5F     7-0353-003chr10:
121565081-121565081
GAintronicDe novo--Trost2022 G
INPP5F     14642.p1chr10:
121525297-121525297
AGintronicDe novo--Turner2016 G
INPP5F     iHART2576chr10:
121582675-121582675
CTexonicMaternalstopgainNM_001243194
NM_014937
c.C295T
c.C2125T
p.R99X
p.R709X
38.0-Ruzzo2019 G
INPP5F     MSSNG00134-003chr10:
121540826-121540826
TGintronicDe novo--Trost2022 G
INPP5F     13964.p1chr10:
121588215-121588215
TCUTR3De novo--Turner2016 G
INPP5F     iHART2578chr10:
121582675-121582675
CTexonicMaternalstopgainNM_001243194
NM_014937
c.C295T
c.C2125T
p.R99X
p.R709X
38.0-Ruzzo2019 G
INPP5F     SP0032180chr10:
121485775-121485775
AGexonicDe novononsynonymous SNVNM_001243195
NM_014937
c.A1G
c.A1G
p.M1V
p.M1V
22.95.819E-5Fu2022 E
Zhou2022 GE
INPP5F     1-1206-003chr10:
121544533-121544533
TGintronicDe novo--Trost2022 G
INPP5F     7-0266-003chr10:
121505957-121505957
GAintronicDe novo--Trost2022 G
INPP5F     GEA364chr10:
121551497-121551497
CTexonicDe novosynonymous SNVNM_001243195
NM_014937
c.C561T
c.C561T
p.S187S
p.S187S
--Fu2022 E
INPP5F     4-0008-003chr10:
121524547-121524547
CTintronicDe novo--Trost2022 G
INPP5F     3-0183-000chr10:
121496486-121496486
CTintronicDe novo--Trost2022 G
INPP5F     5-5071-003chr10:
121497806-121497806
TTCintronicDe novo--Trost2022 G
INPP5F     3-0180-000chr10:
121579002-121579002
CGexonicnonsynonymous SNVNM_001243194c.C7Gp.H3D13.96-Zhou2022 GE
INPP5F     AU4479301chr10:
121564063-121564063
CTintronicDe novo--Trost2022 G
Yuen2017 G
INPP5F     SP0032181chr10:
121485775-121485775
AGexonicnonsynonymous SNVNM_001243195
NM_014937
c.A1G
c.A1G
p.M1V
p.M1V
22.95.819E-5Zhou2022 GE
INPP5F     iHART3123chr10:
121586240-121586241
TCTexonicPaternalframeshift deletionNM_001243194
NM_014937
c.518delC
c.2348delC
p.S173fs
p.S783fs
--Ruzzo2019 G
INPP5F     SP0233970chr10:
121567572-121567572
GTexonicDe novononsynonymous SNVNM_014937c.G1569Tp.K523N23.0-Trost2022 G
INPP5F     mAGRE2576chr10:
121582675-121582675
CTexonicMaternalstopgainNM_001243194
NM_014937
c.C295T
c.C2125T
p.R99X
p.R709X
38.0-Cirnigliaro2023 G
INPP5F     mAGRE1416chr10:
121564897-121564897
CTexonicPaternalstopgainNM_014937c.C1243Tp.R415X39.04.971E-5Cirnigliaro2023 G
INPP5F     mAGRE5568chr10:
121563782-121563783
ACAexonicMaternalstopgainNM_014937c.1215delCp.Y405X--Cirnigliaro2023 G
INPP5F     mAGRE3123chr10:
121586240-121586241
TCTexonicPaternalframeshift deletionNM_001243194
NM_014937
c.518delC
c.2348delC
p.S173fs
p.S783fs
--Cirnigliaro2023 G
INPP5F     mAGRE2578chr10:
121582675-121582675
CTexonicMaternalstopgainNM_001243194
NM_014937
c.C295T
c.C2125T
p.R99X
p.R709X
38.0-Cirnigliaro2023 G
Source Variant Information

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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 notesView
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