Variant Results

or

Results for "RUFY3"

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

RUFY3

AU030703

chr4:
71617790-71617790

G

T

intronic

De novo

-

Yuen2017 G

RUFY3

DEASD_0110_001

chr4:
71588304-71588304

C

T

exonic

De novo

nonsynonymous SNV

NM_001037442
NM_001291994
NM_014961

c.C14T
c.C14T
c.C14T

p.T5M
p.T5M
p.T5M

25.6

8.28E-6

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

RUFY3

DEASD_0043_002

chr4:
71629352-71629352

A

G

exonic

De novo

nonsynonymous SNV

NM_001037442
NM_001130709
NM_014961
NM_001291993
NM_001291994

c.A436G
c.A616G
c.A436G
c.A277G
c.A490G

p.I146V
p.I206V
p.I146V
p.I93V
p.I164V

17.07

-

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

RUFY3

1-0339-003

chr4:
71598147-71598147

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

1-0433-004

chr4:
71617326-71617329

CTGT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

NDAR_INVHB587BPE_wes1

chr4:
71660616-71660616

T

C

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RUFY3

7-0059-003

chr4:
71632258-71632258

G

A

intronic

De novo

-

Yuen2017 G

RUFY3

MSSNG00109-003

chr4:
71617128-71617128

C

T

intronic

De novo

-

Trost2022 G

RUFY3

3-0095-000

chr4:
71651773-71651773

A

T

intronic

De novo

-

Trost2022 G

RUFY3

AU4356302

chr4:
71610572-71610572

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

2-0129-005

chr4:
71585381-71585381

T

TTTTGATAC

intronic

De novo

-

Trost2022 G

RUFY3

1-0057-003

chr4:
71597997-71597997

A

T

intronic

De novo

-

Trost2022 G

RUFY3

7-0329-003

chr4:
71584129-71584129

G

C

intronic

De novo

-

Trost2022 G

RUFY3

2-0129-005

chr4:
71585378-71585378

A

ATACAT

intronic

De novo

-

Trost2022 G

RUFY3

1924-23853

chr4:
71665895-71665897

TAA

T

exonic

frameshift deletion

NM_001037442
NM_001291993

c.1596_1597del
c.1437_1438del

p.L532fs
p.L479fs

-

Callaghan2019 G

RUFY3

2-0202-003

chr4:
71644740-71644740

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

2-1605-004

chr4:
71664191-71664191

G

GA

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

AU2109302

chr4:
71624879-71624879

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

1-0481-003

chr4:
71663027-71663027

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

SP0111341

chr4:
71658709-71658709

T

C

UTR3

De novo

-

Fu2022 E
Trost2022 G

RUFY3

SJD_49

chr4:
71634283-71634283

A

G

exonic

Maternal

nonsynonymous SNV

NM_001037442
NM_001130709
NM_014961
NM_001291993
NM_001291994

c.A601G
c.A781G
c.A601G
c.A442G
c.A655G

p.M201V
p.M261V
p.M201V
p.M148V
p.M219V

15.33

1.0E-4

Toma2013 E

RUFY3

2-1696-003

chr4:
71634050-71634050

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RUFY3

SP0027209

chr4:
71607370-71607370

G

A

exonic

De novo

nonsynonymous SNV

NM_001291994

c.G205A

p.V69M

17.86

-

Fu2022 E
Zhou2022 GE

RUFY3

2-0144-003

chr4:
71570502-71570502

G

T

upstream

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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