Variant Results

or

Results for "RNF216"

Variant Events: 32

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

RNF216

3-0392-000

chr7:
5727071-5727071

G

A

intronic

De novo

-

Trost2022 G

RNF216

AU076704

chr7:
5727178-5727190

CTAAATGACATCT

C

intronic

De novo

-

Trost2022 G

RNF216

MSSNG00125-003

chr7:
5692911-5692911

T

G

intronic

De novo

-

Trost2022 G

RNF216

1-0803-003

chr7:
5722795-5722795

C

T

intronic

De novo

-

Trost2022 G

RNF216

74-0075

chr7:
5740027-5740027

G

A

intronic

De novo

-

Michaelson2012 G

RNF216

MSSNG00349-003

chr7:
5669353-5669353

G

T

intronic

De novo

-

Trost2022 G

RNF216

REACH000065

chr7:
5770992-5770992

T

G

intronic

De novo

-

Trost2022 G

RNF216

SP0103327

chr7:
5778991-5778995

CAAAT

C

intronic

De novo

-

Trost2022 G

RNF216

MSSNG00067-003

chr7:
5751842-5751842

G

A

intronic

De novo

-

Trost2022 G

RNF216

11002.p1

chr7:
5699943-5699943

A

T

intronic

De novo

-

Turner2016 G

RNF216

1-1162-003

chr7:
5769500-5769500

C

T

intronic

De novo

-

Trost2022 G

RNF216

2-1294-004

chr7:
5743292-5743292

C

CA

intronic

De novo

-

Trost2022 G

RNF216

AU031403

chr7:
5788057-5788057

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF216

5-1004-003A

chr7:
5750730-5750730

C

T

intronic

De novo

-

Trost2022 G

RNF216

1-0863-003

chr7:
5788308-5788308

A

C

intronic

De novo

-

Yuen2017 G

RNF216

7-0226-003

chr7:
5733420-5733420

A

G

intronic

De novo

-

Trost2022 G

RNF216

3-0504-000

chr7:
5736004-5736004

C

A

intronic

De novo

-

Trost2022 G

RNF216

AU2717301

chr7:
5801105-5801105

G

A

intronic

De novo

-

Trost2022 G

RNF216

AC02-1197-01

chr7:
5752394-5752394

C

T

exonic

De novo

nonsynonymous SNV

NM_207111
NM_207116

c.G1934A
c.G1763A

p.R645Q
p.R588Q

34.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RNF216

MSSNG00183-003

chr7:
5802344-5802344

A

C

intronic

De novo

-

Trost2022 G

RNF216

AU007503

chr7:
5740027-5740027

G

A

intronic

De novo

-

Yuen2017 G

RNF216

A11

chr7:
5767693-5767693

C

T

intronic

De novo

-

Wu2018 G

RNF216

SP0139616

chr7:
5662572-5662572

G

C

exonic

De novo

nonsynonymous SNV

NM_207111
NM_207116

c.C2691G
c.C2520G

p.N897K
p.N840K

19.88

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RNF216

1-0985-003

chr7:
5807744-5807744

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF216

AU3875301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

RNF216

1-0271-003

chr7:
5699191-5699191

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF216

AU3846303

chr7:
5748673-5748673

C

T

intronic

De novo

-

Yuen2017 G

RNF216

3821007105194-C

chr7:
5662570-5662570

T

C

exonic

De novo

nonsynonymous SNV

NM_207111
NM_207116

c.A2693G
c.A2522G

p.Y898C
p.Y841C

13.09

8.253E-6

Fu2022 E

RNF216

SP0145997

chr7:
5800676-5800676

C

T

exonic

De novo

nonsynonymous SNV

NM_207111
NM_207116

c.G25A
c.G25A

p.E9K
p.E9K

22.4

-

Fu2022 E
Zhou2022 GE

RNF216

AU045010

chr7:
5841052-5841052

T

C

intergenic

De novo

-

Yuen2017 G

RNF216

7-0133-003

chr7:
5693301-5693301

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF216

AU3637301

chr7:
5743954-5743954

G

A

intronic

De novo

-

Trost2022 G
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
	More