Variant Results

or

Results for "RNF220"

Variant Events: 46

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

RNF220

AU3768302

chr1:
44890805-44890805

G

A

intronic

De novo

-

Yuen2017 G

RNF220

AU073003

chr1:
44928754-44928754

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

AU1742302

chr1:
44936910-44936910

C

T

intronic

De novo

-

Yuen2017 G

RNF220

SP0031834

chr1:
45110670-45110670

C

G

exonic

De novo

stopgain

NM_018150

c.C1227G

p.Y409X

24.5

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

RNF220

2-0210-005

chr1:
45048054-45048054

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

DEASD_1033_001

chr1:
45098072-45098072

G

GC

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

RNF220

1-0232-004

chr1:
44945078-44945078

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

AU4286302

chr1:
44932662-44932662

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

1-0004-003

chr1:
45006494-45006494

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

AU012804

chr1:
45107251-45107251

G

T

intronic

De novo

-

Yuen2017 G

RNF220

AU4032307

chr1:
44948029-44948029

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

5-0050-004

chr1:
44951053-44951063

GGAGAGACAGT

CCCG

intronic

De novo

-

Trost2022 G

RNF220

SJD_79.3

chr1:
44937634-44937634

C

A

intronic

De novo

-

Trost2022 G

RNF220

1-0203-004

chr1:
44936958-44936958

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

MT_170.3

chr1:
44967835-44967835

A

T

intronic

De novo

-

Trost2022 G

RNF220

5-0050-003

chr1:
44951053-44951063

GGAGAGACAGT

CCCG

intronic

De novo

-

Trost2022 G

RNF220

MT_18.3

chr1:
44892130-44892130

G

C

intronic

De novo

-

Trost2022 G

RNF220

7-0405-004

chr1:
44881179-44881179

A

G

intronic

De novo

-

Trost2022 G

RNF220

3-0270-000

chr1:
44916022-44916022

A

C

intronic

De novo

-

Trost2022 G

RNF220

3-0270-000

chr1:
44913626-44913626

T

C

intronic

De novo

-

Trost2022 G

RNF220

2-0295-004

chr1:
45032301-45032301

A

AAG

intronic

De novo

-

Trost2022 G

RNF220

2-0070-004

chr1:
44900146-44900146

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

2-1425-004

chr1:
45032301-45032301

A

AAG

intronic

De novo

-

Trost2022 G

RNF220

EGAN00001101354

chr1:
45111137-45111137

C

T

exonic

De novo

synonymous SNV

NM_018150

c.C1422T

p.T474T

12.63

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RNF220

7-0286-004A

chr1:
45050021-45050021

G

A

intronic

De novo

-

Trost2022 G

RNF220

SJD_8.4

chr1:
45039727-45039727

G

A

intronic

De novo

-

Trost2022 G

RNF220

AU005213

chr1:
45062579-45062579

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

11526.p1

chr1:
45025136-45025136

A

C

intronic

De novo

-

Wilfert2021 G

RNF220

MT_179.4

chr1:
44981497-44981497

A

C

intronic

De novo

-

Trost2022 G

RNF220

2-1237-004

chr1:
44970858-44970858

C

G

intronic

De novo

-

Trost2022 G

RNF220

2-0272-003

chr1:
45032301-45032301

A

AAG

intronic

De novo

-

Trost2022 G

RNF220

5-5209-003

chr1:
45015646-45015646

C

T

intronic

De novo

-

Trost2022 G

RNF220

2-1362-004

chr1:
45116498-45116502

CCTCT

TGACC

UTR3

De novo

-

Trost2022 G

RNF220

AU3727303

chr1:
45099899-45099899

G

A

intronic

De novo

-

Trost2022 G

RNF220

MSSNG00031-004

chr1:
45082744-45082744

G

A

intronic

De novo

-

Trost2022 G

RNF220

2-1355-004

chr1:
44991853-44991853

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

MSSNG00433-003

chr1:
45114964-45114964

G

GA

intronic

De novo

-

Trost2022 G

RNF220

SSC07934

chr1:
45110850-45110850

G

A

intronic

De novo

-

1.0E-4

Trost2022 G

RNF220

SP0026093

chr1:
45101709-45101709

G

A

exonic

De novo

nonsynonymous SNV

NM_018150

c.G1001A

p.G334D

20.7

8.239E-6

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

RNF220

ASDFI_1540

chr1:
45098108-45098108

C

T

intronic

De novo

-

5.177E-5

Satterstrom2020 E
Trost2022 G

RNF220

13572.p1

chr1:
45110850-45110850

G

A

intronic

De novo

-

1.0E-4

Krumm2015 E
Satterstrom2020 E

RNF220

2-1729-003

chr1:
44905909-44905909

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

1-0389-004

chr1:
45091117-45091117

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF220

AU3911302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G

RNF220

1-0453-003

chr1:
44895712-44895712

C

T

intronic

De novo

-

Yuen2017 G

RNF220

2-1506-003

chr1:
45003049-45003064

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intronic

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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