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Results for "INPP4A"

Variant Events: 17

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
INPP4A     1-0381-003chr2:
99211025-99211025
AGintergenicDe novo--Yuen2017 G
INPP4A     AU2100302chr2:
99094997-99094997
CGintronicDe novo--Yuen2017 G
INPP4A     AU4013301chr2:
99126463-99126463
CTintronicDe novo--Yuen2017 G
INPP4A     1-0460-003chr2:
99109629-99109629
CAintronicDe novo--Yuen2017 G
INPP4A     1-0460-003chr2:
99107959-99107959
ATintronicDe novo--Yuen2017 G
INPP4A     AU128Achr2:
99163073-99163073
TCexonicDe novononsynonymous SNVNM_001134224
NM_001134225
NM_001566
NM_004027
c.T1079C
c.T1079C
c.T1079C
c.T1079C
p.I360T
p.I360T
p.I360T
p.I360T
15.168.297E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
INPP4A     1-0460-003chr2:
99107616-99107616
CTintronicDe novo--Yuen2017 G
INPP4A     AU3913302chr2:
99112906-99112906
CTintronicDe novo--Yuen2017 G
INPP4A     2-1315-003chr2:
99143344-99143344
AGintronicDe novo--Yuen2016 G
Yuen2017 G
INPP4A     1-0213-003chr2:
99108909-99108909
CTintronicDe novo--Yuen2016 G
INPP4A     AU3858303chr2:
99160848-99160848
ACintronicDe novo--Yuen2017 G
INPP4A     2-1290-003chr2:
99112515-99112515
ATintronicDe novo--Yuen2017 G
INPP4A     1-0213-004chr2:
99108909-99108909
CTintronicDe novo--Yuen2017 G
INPP4A     A31chr2:
99124609-99124609
GAintronicDe novo--Wu2018 G
INPP4A     2-0102-004chr2:
99133537-99133537
CTintronicDe novo--Yuen2017 G
INPP4A     2-0007-003chr2:
99060434-99060434
GCupstreamDe novo--Yuen2017 G
INPP4A     7-0100-003chr2:
99144093-99144093
CTintronicDe novo--Yuen2017 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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