Variant Results

or

or

Results for "JAK2"

Variant Events: 21

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

11887-1

chr9:
5091029-5091029

T

TAAGTC

intronic

De novo

-

-

Fu2022 E

JAK2

12100.p1

chr9:
5126467-5126467

C

G

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

JAK2

02.s1

chr9:
5123091-5123091

A

G

exonic

De novo

synonymous SNV

NM_004972

c.A3147G

p.T1049T

-

-

An2014 E

JAK2

1-0871-003

chr9:
5065956-5065956

C

A

intronic

De novo

-

-

Yuen2017 G

JAK2

2-1402-003

chr9:
5045527-5045527

A

G

intronic

De novo

-

-

Yuen2017 G

JAK2

2-0070-003

chr9:
5106492-5106492

C

T

intronic

De novo

-

-

Yuen2017 G

JAK2

1-0169-004

chr9:
5013519-5013519

C

CTA

intronic

De novo

-

-

Yuen2017 G

JAK2

1-0871-003

chr9:
5077921-5077921

G

C

intronic

De novo

-

-

Yuen2017 G

JAK2

08C75107

chr9:
5050795-5050795

A

C

exonic

De novo

nonsynonymous SNV

NM_004972

c.A578C

p.N193T

12.75

-

Fu2022 E
Satterstrom2020 E

JAK2

1-0871-003

chr9:
5065966-5065966

G

A

intronic

De novo

-

-

Yuen2017 G

JAK2

PN400579

chr9:
5090541-5090541

C

A

exonic

Unknown

nonsynonymous SNV

NM_004972

c.C2857A

p.L953I

25.5

Leblond2019 E

JAK2

2-0006-004

chr9:
5094810-5094810

C

T

intronic

De novo

-

-

Yuen2017 G

JAK2

AU3768302

chr9:
5110541-5110541

G

C

intronic

De novo

-

-

Yuen2017 G

JAK2

SP0067336

chr9:
5029881-5029881

A

G

exonic

De novo

nonsynonymous SNV

NM_004972

c.A325G

p.R109G

14.81

-

Fu2022 E

JAK2

2-1626-003

chr9:
4991927-4991928

TC

T

intronic

De novo

-

-

Yuen2017 G

JAK2

DEASD_1034_001

chr9:
5069251-5069251

T

C

intronic

De novo

-

-

Satterstrom2020 E

JAK2

1-0121-003

chr9:
5092573-5092573

T

C

intronic

De novo

-

-

Yuen2017 G

JAK2

AU4089302

chr9:
5120210-5120210

G

T

intronic

De novo

-

-

Yuen2017 G

JAK2

A15

chr9:
5064922-5064922

G

C

exonic

De novo

nonsynonymous SNV

NM_004972

c.G1096C

p.V366L

19.32

Jiao2019 E

JAK2

1-0627-003

chr9:
5051062-5051062

C

G

intronic

De novo

-

-

Yuen2017 G

JAK2

12290.p1

chr9:
5110989-5110989

C

T

intronic

De novo

-

-

Werling2018 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 notes	View
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