Variant Results

or

Results for "RNF38"

Variant Events: 24

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

RNF38

7-0094-003

chr9:
36380291-36380291

G

C

intronic

De novo

-

Trost2022 G

RNF38

12056.p1

chr9:
36375929-36375929

A

G

splicing

De novo

splicing

20.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

RNF38

1-0991-003

chr9:
36535076-36535076

G

A

intergenic

De novo

-

Yuen2017 G

RNF38

AU4027306

chr9:
36530568-36530568

C

T

intergenic

De novo

-

Yuen2017 G

RNF38

1-0991-003

chr9:
36443254-36443254

G

C

intergenic

De novo

-

Yuen2017 G

RNF38

AU4027306

chr9:
36536049-36536049

A

G

intergenic

De novo

-

Yuen2017 G

RNF38

7-0032-003

chr9:
36560639-36560639

A

T

intergenic

De novo

-

Yuen2017 G

RNF38

AU3777302

chr9:
36358535-36358535

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RNF38

AU4067301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

RNF38

2-1323-003

chr9:
36534552-36534552

C

T

intergenic

De novo

-

Yuen2016 G

RNF38

4-0073-003

chr9:
36340872-36340873

CT

AG

intronic

De novo

-

Trost2022 G

RNF38

Uddin2014:17

chr9:
36375929-36375929

A

G

splicing

De novo

splicing

20.7

-

Uddin2014 E

RNF38

AU076509

chr9:
36439489-36439489

A

G

intergenic

De novo

-

Yuen2017 G

RNF38

2-0242-004

chr9:
36335729-36335729

C

T

downstream

De novo

-

Trost2022 G
Yuen2017 G

RNF38

Li2017:23139

chr9:
36356440-36356440

G

T

exonic

Unknown

nonsynonymous SNV

NM_194329
NM_194332
NM_022781
NM_194328
NM_194330

c.C619A
c.C520A
c.C769A
c.C520A
c.C520A

p.P207T
p.P174T
p.P257T
p.P174T
p.P174T

26.7

8.402E-6

Li2017 T

RNF38

1-0004-003

chr9:
36467037-36467037

G

T

intergenic

De novo

-

Yuen2017 G

RNF38

SSC04732

chr9:
36375929-36375929

A

G

splicing

De novo

splicing

20.7

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

RNF38

2-1231-003

chr9:
36463190-36463190

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RNF38

1-0261-003

chr9:
36474944-36474944

G

T

intergenic

De novo

-

Yuen2017 G

RNF38

AU4479301

chr9:
36487791-36487791

G

A

intergenic

De novo

-

Yuen2017 G

RNF38

AU3779304

chr9:
36491695-36491695

C

A

intergenic

De novo

-

Yuen2017 G

RNF38

AU3124302

chr9:
36442862-36442862

T

C

intergenic

De novo

-

Yuen2017 G

RNF38

AU4286302

chr9:
36482056-36482056

T

C

intergenic

De novo

-

Yuen2017 G

RNF38

SP0015484

chr9:
36400793-36400793

T

G

UTR5

De novo

-

Fu2022 E
Trost2022 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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