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Results for "JAK2"

Variant Events: 19

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
JAK2     12100.p1chr9:
5126467-5126467
CGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
JAK2     02.s1chr9:
5123091-5123091
AGexonicDe novosynonymous SNVNM_004972c.A3147Gp.T1049T--An2014 E
JAK2     1-0871-003chr9:
5065956-5065956
CAintronicDe novo--Yuen2017 G
JAK2     2-1402-003chr9:
5045527-5045527
AGintronicDe novo--Yuen2017 G
JAK2     2-0070-003chr9:
5106492-5106492
CTintronicDe novo--Yuen2017 G
JAK2     1-0169-004chr9:
5013519-5013519
CCTAintronicDe novo--Yuen2017 G
JAK2     1-0871-003chr9:
5077921-5077921
GCintronicDe novo--Yuen2017 G
JAK2     08C75107chr9:
5050795-5050795
ACexonicDe novononsynonymous SNVNM_004972c.A578Cp.N193T12.75-Satterstrom2020 E
JAK2     1-0871-003chr9:
5065966-5065966
GAintronicDe novo--Yuen2017 G
JAK2     PN400579chr9:
5090541-5090541
CAexonicUnknownnonsynonymous SNVNM_004972c.C2857Ap.L953I25.53.324E-5Leblond2019 E
JAK2     2-0006-004chr9:
5094810-5094810
CTintronicDe novo--Yuen2017 G
JAK2     AU3768302chr9:
5110541-5110541
GCintronicDe novo--Yuen2017 G
JAK2     2-1626-003chr9:
4991927-4991928
TCTintronicDe novo--Yuen2017 G
JAK2     DEASD_1034_001chr9:
5069251-5069251
TCintronicDe novo--Satterstrom2020 E
JAK2     1-0121-003chr9:
5092573-5092573
TCintronicDe novo--Yuen2017 G
JAK2     AU4089302chr9:
5120210-5120210
GTintronicDe novo--Yuen2017 G
JAK2     A15chr9:
5064922-5064922
GCexonicDe novononsynonymous SNVNM_004972c.G1096Cp.V366L19.322.481E-5Jiao2019 E
JAK2     1-0627-003chr9:
5051062-5051062
CGintronicDe novo--Yuen2017 G
JAK2     12290.p1chr9:
5110989-5110989
CTintronicDe novo--Werling2018 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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