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Results for "PHACTR2"

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
PHACTR2     11336.p1chr6:
144033170-144033173
GCTTGexonicDe novononframeshift deletionNM_001100164
NM_001100165
NM_001100166
NM_014721
c.65_67del
c.65_67del
c.32_34del
c.32_34del
p.22_23del
p.22_23del
p.11_12del
p.11_12del
--Dong2014 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PHACTR2     A19chr6:
144025261-144025261
GGTintronicDe novo--Wu2018 G
PHACTR2     2-0323-004chr6:
143902408-143902408
AGintergenicDe novo--Yuen2017 G
PHACTR2     2-1186-003chr6:
143964968-143964968
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PHACTR2     AU076704chr6:
144090587-144090587
GAintronicDe novo--Yuen2017 G
PHACTR2     AU4433301chr6:
144045122-144045126
CAGAGCAGintronicDe novo--Yuen2017 G
PHACTR2     ASC_CA_74_Achr6:
144076417-144076417
AGintronicDe novo--Satterstrom2020 E
PHACTR2     1-0006-004chr6:
143908644-143908644
CTintergenicDe novo--Yuen2017 G
PHACTR2     5-0065-003chr6:
143901645-143901645
CCAintergenicDe novo--Yuen2017 G
PHACTR2     A7chr6:
143983529-143983529
CCCintronicDe novo--Wu2018 G
PHACTR2     2-1502-003chr6:
143926487-143926487
ACintergenicDe novo--Yuen2017 G
PHACTR2     AU3368302chr6:
144145968-144145968
ACUTR3De novo--Yuen2017 G
PHACTR2     2-1466-003chr6:
144081182-144081182
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PHACTR2     1-0330-004chr6:
143921869-143921884
ATTGTTTTGTTTAGTTAintergenicDe novo--Yuen2017 G
PHACTR2     2-1477-003chr6:
144072418-144072418
CTintronicDe novo--Yuen2017 G
PHACTR2     2-1142-003chr6:
143942082-143942082
TGintronicDe novo--Yuen2017 G
PHACTR2     AU4219302chr6:
143979542-143979547
CTTTTTCTTTintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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