Variant Results

or

Results for "RNF213"

Variant Events: 33

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

RNF213

1-0435-003

chr17:
78255438-78255441

ACTC

AC

intronic

De novo

-

Yuen2017 G

RNF213

10001451004926525-C

chr17:
78360523-78360526

GCAT

G

exonic

De novo

nonframeshift deletion

NM_001256071

c.14755_14757del

p.4919_4919del

-

Fu2022 E

RNF213

13451.p1

chr17:
78353516-78353516

T

C

splicing

Mosaic, De novo

splicing

13.68

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RNF213

2-0318-003

chr17:
78255197-78255197

T

C

intronic

De novo

-

Yuen2017 G

RNF213

2-1525-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

RNF213

REACH000767

chr17:
78239564-78239564

T

A

intronic

De novo

-

Trost2022 G

RNF213

mAGRE4566

chr17:
78317677-78317682

GTTTCT

G

exonic

Maternal

frameshift deletion

NM_001256071

c.6205_6209del

p.F2069fs

-

Cirnigliaro2023 G

RNF213

2-1722-003

chr17:
78259966-78259966

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF213

7-0179-003

chr17:
78261683-78261683

C

A

exonic

De novo

nonsynonymous SNV

NM_001256071
NM_020954

c.C331A
c.C331A

p.P111T
p.P111T

4.9

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

RNF213

MSSNG00011-004

chr17:
78293364-78293364

C

T

UTR3

De novo

-

Trost2022 G

RNF213

2-1358-003

chr17:
78295597-78295597

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF213

SP0108351

chr17:
78314194-78314194

A

T

intronic

De novo

-

Fu2022 E

RNF213

SP0101624

chr17:
78247006-78247006

T

G

intronic

De novo

-

Fu2022 E

RNF213

mAGRE1964

chr17:
78350762-78350762

C

G

exonic

Paternal

stopgain

NM_001256071

c.C13509G

p.Y4503X

47.0

8.647E-6

Cirnigliaro2023 G

RNF213

mAGRE5804

chr17:
78343587-78343587

A

ATC

exonic

Maternal

frameshift insertion

NM_001256071

c.12345_12346insTC

p.K4115fs

-

Cirnigliaro2023 G

RNF213

mAGRE5803

chr17:
78343587-78343587

A

ATC

exonic

Maternal

frameshift insertion

NM_001256071

c.12345_12346insTC

p.K4115fs

-

Cirnigliaro2023 G

RNF213

mAGRE1532

chr17:
78320293-78320293

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.8159dupT

p.L2720fs

-

Cirnigliaro2023 G

RNF213

1-0494-003A

chr17:
78237818-78237835

TCCGTCCCTCGTTCAGGC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF213

mAGRE1531

chr17:
78320293-78320293

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.8159dupT

p.L2720fs

-

Cirnigliaro2023 G

RNF213

SP0085024

chr17:
78338260-78338260

C

T

exonic

De novo

synonymous SNV

NM_001256071

c.C11778T

p.T3926T

-

3.297E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

RNF213

mAGRE1894

chr17:
78319432-78319432

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.7298dupT

p.L2433fs

-

Cirnigliaro2023 G

RNF213

mAGRE1891

chr17:
78319432-78319432

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.7298dupT

p.L2433fs

-

Cirnigliaro2023 G

RNF213

iHART1891

chr17:
78319432-78319432

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.7298dupT

p.L2433fs

-

Ruzzo2019 G

RNF213

iHART3202

chr17:
78247177-78247177

T

A

exonic

De novo

nonsynonymous SNV

NM_001256071
NM_020954

c.T235A
c.T235A

p.S79T
p.S79T

6.716

-

Ruzzo2019 G

RNF213

SSC09735

chr17:
78353516-78353516

T

C

splicing

De novo

splicing

13.68

-

Fu2022 E
Lim2017 E
Trost2022 G

RNF213

iHART1531

chr17:
78320293-78320293

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.8159dupT

p.L2720fs

-

Ruzzo2019 G

RNF213

SSC07079

chr17:
78263533-78263533

G

A

exonic

De novo

nonsynonymous SNV

NM_001256071
NM_020954

c.G1009A
c.G1009A

p.E337K
p.E337K

10.39

-

Fu2022 E
Lim2017 E
Trost2022 G

RNF213

iHART1894

chr17:
78319432-78319432

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.7298dupT

p.L2433fs

-

Ruzzo2019 G

RNF213

2-0142-004

chr17:
78255120-78255125

ACCACT

A

intronic

De novo

-

Yuen2017 G

RNF213

13319.p1

chr17:
78263533-78263533

G

A

exonic

De novo

nonsynonymous SNV

NM_001256071
NM_020954

c.G1009A
c.G1009A

p.E337K
p.E337K

10.39

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RNF213

iHART1964

chr17:
78350762-78350762

C

G

exonic

Paternal

stopgain

NM_001256071

c.C13509G

p.Y4503X

47.0

8.647E-6

Ruzzo2019 G

RNF213

iHART1532

chr17:
78320293-78320293

C

CT

exonic

Paternal

frameshift insertion

NM_001256071

c.8159dupT

p.L2720fs

-

Ruzzo2019 G

RNF213

SSC08475

chr17:
78317742-78317742

A

C

exonic

De novo

nonsynonymous SNV

NM_001256071

c.A6269C

p.N2090T

3.302

-

Fu2022 E

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
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