Variant Results

or

Results for "RUSC2"

Variant Events: 21

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

RUSC2

SP0062728

chr9:
35555471-35555471

C

T

exonic

De novo

nonsynonymous SNV

NM_001135999
NM_014806

c.C2429T
c.C2429T

p.A810V
p.A810V

12.19

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RUSC2

2-1504-003

chr9:
35553657-35553657

C

T

intronic

De novo

-

Trost2022 G

RUSC2

SP0079390

chr9:
35559265-35559265

C

G

exonic

De novo

nonsynonymous SNV

NM_001135999
NM_014806

c.C3384G
c.C3384G

p.H1128Q
p.H1128Q

21.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RUSC2

1-0197-003

chr9:
35554758-35554758

G

A

intronic

De novo

-

Trost2022 G

RUSC2

MSSNG00415-003

chr9:
35549025-35549025

G

C

intronic

De novo

-

Trost2022 G

RUSC2

SP0016370

chr9:
35558553-35558553

C

T

exonic

De novo

synonymous SNV

NM_001135999
NM_014806

c.C3330T
c.C3330T

p.L1110L
p.L1110L

-

2.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

RUSC2

MSSNG00421-006

chr9:
35549984-35549984

G

A

intronic

De novo

-

Trost2022 G

RUSC2

AU2320301

chr9:
35528333-35528333

A

G

intronic

De novo

-

Trost2022 G

RUSC2

SP0081679

chr9:
35557971-35557971

G

A

exonic

De novo

nonsynonymous SNV

NM_001135999
NM_014806

c.G3044A
c.G3044A

p.R1015Q
p.R1015Q

36.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RUSC2

74-0481

chr9:
35547963-35547963

C

T

exonic

Inherited

nonsynonymous SNV

NM_001135999
NM_014806

c.C1445T
c.C1445T

p.T482M
p.T482M

15.13

7.436E-5

Patowary2019 E

RUSC2

10-1118-003

chr9:
35554762-35554762

T

A

intronic

De novo

-

Trost2022 G

RUSC2

2-0202-003

chr9:
35554758-35554758

G

A

intronic

De novo

-

Trost2022 G

RUSC2

7-0255-003

chr9:
35548085-35548085

C

T

exonic

De novo

nonsynonymous SNV

NM_001135999
NM_014806

c.C1567T
c.C1567T

p.R523C
p.R523C

16.56

1.697E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

RUSC2

2-0202-004

chr9:
35554758-35554758

G

A

intronic

De novo

-

Trost2022 G

RUSC2

SP0263711

chr9:
35548008-35548008

G

A

exonic

nonsynonymous SNV

NM_001135999
NM_014806

c.G1490A
c.G1490A

p.R497H
p.R497H

22.7

8.295E-6

Zhou2022 GE

RUSC2

13964.p1

chr9:
35529309-35529309

C

T

intronic

De novo

-

Turner2016 G

RUSC2

SP0083686

chr9:
35548531-35548531

C

T

exonic

De novo

synonymous SNV

NM_001135999
NM_014806

c.C2013T
c.C2013T

p.D671D
p.D671D

-

2.0E-4

Trost2022 G
Zhou2022 GE

RUSC2

SP0310501

chr9:
35547041-35547041

G

A

exonic

nonsynonymous SNV

NM_001135999
NM_014806

c.G523A
c.G523A

p.E175K
p.E175K

9.132

8.569E-6

Zhou2022 GE

RUSC2

SP0098106

chr9:
35546835-35546835

A

AGG

exonic

frameshift insertion

NM_001135999
NM_014806

c.317_318insGG
c.317_318insGG

p.Q106fs
p.Q106fs

-

Zhou2022 GE

RUSC2

3-0436-000

chr9:
35496983-35496984

AC

A

intronic

De novo

-

Yuen2017 G

RUSC2

DEASD_0089_001

chr9:
35559246-35559246

T

G

exonic

De novo

nonsynonymous SNV

NM_001135999
NM_014806

c.T3365G
c.T3365G

p.F1122C
p.F1122C

25.9

-

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

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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