Variant Results

or

Results for "IL20RB"

Variant Events: 52

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

IL20RB

AU3839302

chr3:
137374835-137374835

C

T

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0265-003

chr3:
137285323-137285323

G

T

intergenic

De novo

-

Yuen2017 G

IL20RB

2-1112-003

chr3:
137332391-137332391

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IL20RB

1-0092-003

chr3:
137069866-137069866

G

GT

intergenic

De novo

-

Yuen2017 G

IL20RB

REACH000405

chr3:
136701764-136701764

A

G

intronic

De novo

-

Trost2022 G

IL20RB

1-0406-003

chr3:
136695983-136695994

ATGATTTCGGTT

TCCTC

intronic

De novo

-

Trost2022 G

IL20RB

MSSNG00356-004

chr3:
136700933-136700933

T

C

intronic

De novo

-

Trost2022 G

IL20RB

1-0511-003

chr3:
137469868-137469868

G

C

intergenic

De novo

-

Yuen2017 G

IL20RB

2-1567-004

chr3:
136818994-136818994

A

AACC

intergenic

De novo

-

Yuen2017 G

IL20RB

AU3913301

chr3:
136909886-136909886

C

T

intergenic

De novo

-

Yuen2017 G

IL20RB

A4

chr3:
137366275-137366275

C

G

intergenic

De novo

-

Wu2018 G

IL20RB

1-0025-006

chr3:
137425449-137425449

A

AC

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0255-003

chr3:
137055384-137055384

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IL20RB

1-0075-003

chr3:
137239179-137239194

ATCTCTCTCTCTCTCT

ATCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0638-003

chr3:
136741477-136741492

TACACACACACACACA

TACACACACACACA

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0433-004

chr3:
137472853-137472853

G

A

intergenic

De novo

-

Yuen2017 G

IL20RB

08C77595

chr3:
136700970-136700970

G

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

IL20RB

1-0320-004

chr3:
136870610-136870610

G

A

intergenic

De novo

-

Yuen2017 G

IL20RB

11356.p1

chr3:
136708288-136708288

C

G

exonic

De novo

nonsynonymous SNV

NM_144717

c.C412G

p.L138V

20.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

IL20RB

2-1085-004

chr3:
137411547-137411547

A

G

intergenic

De novo

-

Yuen2017 G

IL20RB

2-1085-004

chr3:
137143280-137143280

A

T

intergenic

De novo

-

Yuen2017 G

IL20RB

AU003405

chr3:
136965259-136965259

C

G

intergenic

De novo

-

Yuen2017 G

IL20RB

13095.p1

chr3:
136867480-136867480

C

A

intergenic

Mosaic

-

Dou2017 E

IL20RB

AU011704

chr3:
136799487-136799487

C

G

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0555-003

chr3:
136841352-136841352

A

G

intergenic

De novo

-

Yuen2017 G

IL20RB

74-0117

chr3:
136799487-136799487

C

G

intergenic

De novo

-

Michaelson2012 G

IL20RB

1-0652-004

chr3:
137099239-137099239

G

GAATT

intergenic

De novo

-

Yuen2017 G

IL20RB

AU3371302

chr3:
137075783-137075783

T

C

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0186-004

chr3:
137000185-137000185

C

A

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0073-003

chr3:
137172746-137172746

A

G

intergenic

De novo

-

Yuen2017 G

IL20RB

AU072505

chr3:
137431652-137431652

G

A

intergenic

De novo

-

Yuen2017 G

IL20RB

mAGRE4752

chr3:
136714284-136714284

G

GT

exonic

Paternal

frameshift insertion

NM_144717

c.712dupT

p.L237fs

-

Cirnigliaro2023 G

IL20RB

mAGRE3040

chr3:
136708282-136708282

G

A

splicing

Paternal

splicing

18.84

7.417E-5

Cirnigliaro2023 G

IL20RB

1-0380-003

chr3:
136741528-136741528

C

T

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0025-004

chr3:
137425449-137425449

A

AC

intergenic

De novo

-

Yuen2017 G

IL20RB

AU3912302

chr3:
136898206-136898206

C

T

intergenic

De novo

-

Yuen2017 G

IL20RB

2-1592-003

chr3:
136951758-136951758

A

G

intergenic

De novo

-

Yuen2017 G

IL20RB

5-0021-003

chr3:
137030359-137030359

T

C

intergenic

De novo

-

Yuen2017 G

IL20RB

iHART3040

chr3:
136708282-136708282

G

A

splicing

Paternal

splicing

18.84

7.417E-5

Ruzzo2019 G

IL20RB

2-0323-003

chr3:
136967203-136967203

C

T

intergenic

De novo

-

Yuen2017 G

IL20RB

7-0255-003

chr3:
136825834-136825851

AAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

IL20RB

AU3911301

chr3:
137036396-137036396

T

G

intergenic

De novo

-

Yuen2017 G

IL20RB

AU4485302

chr3:
137381183-137381183

G

A

intergenic

De novo

-

Yuen2017 G

IL20RB

2-1154-003

chr3:
137474112-137474112

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IL20RB

AU006804

chr3:
136952240-136952240

A

T

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0092-004

chr3:
137110197-137110197

C

CCAATAGCA

intergenic

De novo

-

Yuen2017 G

IL20RB

AU003403

chr3:
137252571-137252571

G

A

intergenic

De novo

-

Yuen2017 G

IL20RB

AU3885304

chr3:
137318358-137318358

C

T

intergenic

De novo

-

Yuen2017 G

IL20RB

1-0265-004

chr3:
137285323-137285323

G

T

intergenic

De novo

-

Yuen2017 G

IL20RB

2-1174-006

chr3:
137318866-137318866

T

A

intergenic

De novo

-

Yuen2017 G

IL20RB

2-1591-003

chr3:
136793156-136793156

G

A

intergenic

De novo

-

Yuen2017 G

IL20RB

AU028305

chr3:
136857102-136857102

G

A

intergenic

De 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 notes	View
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