or
or
Exact

Results for "PIK3R5"

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
PIK3R5     2-1362-003chr17:
8814770-8814770
CTexonicDe novosynonymous SNVNM_001142633
NM_014308
c.G42A
c.G42A
p.Q14Q
p.Q14Q
--Yuen2015 G
Yuen2017 G
PIK3R5     AU2793301chr17:
8833521-8833521
AGintronicDe novo--Yuen2017 G
PIK3R5     AU2756306chr17:
8837714-8837714
GCintronicDe novo--Yuen2017 G
PIK3R5     2-1330-003chr17:
8839263-8839263
CTintronicDe novo--Yuen2017 G
PIK3R5     14604.p1chr17:
8784802-8784802
TAintronicMosaic--Dou2017 E
PIK3R5     2-0307-003chr17:
8910455-8910455
CCTTintergenicDe novo--Yuen2017 G
PIK3R5     7-0255-003chr17:
8883529-8883529
AGintergenicDe novo--Yuen2017 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 notesView
More