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Results for "INPP5B"

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
INPP5B     AU2215302chr1:
38328796-38328799
AGGGAGGGGGintronicDe novo--Yuen2017 G
INPP5B     1-0025-004chr1:
38380167-38380167
GAintronicDe novo--Yuen2017 G
INPP5B     7-0102-003chr1:
38343654-38343654
AGintronicDe novo--Yuen2017 G
INPP5B     2-1176-003chr1:
38377821-38377821
GGCCTintronicDe novo--Yuen2017 G
INPP5B     AU4054301chr1:
38351448-38351448
AGexonicDe novononsynonymous SNVNM_001297434
NM_005540
c.T689C
c.T1181C
p.I230T
p.I394T
23.5-Yuen2017 G
INPP5B     AU4242302chr1:
38336994-38336994
GAintronicDe novo--Yuen2017 G
INPP5B     12703.p1chr1:
38411441-38411441
CTexonicDe novononsynonymous SNVNM_005540c.G139Ap.G47S8.246-Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 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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