Variant Results

or

Results for "RIPOR2"

Variant Events: 40

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

RIPOR2

AU024608

chr6:
24888993-24888993

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIPOR2

AU3912303

chr6:
25076622-25076623

TG

TGG

intergenic

De novo

-

Yuen2017 G

RIPOR2

2-1635-004

chr6:
24956736-24956739

TATC

T

intronic

De novo

-

Yuen2017 G

RIPOR2

2-0129-004

chr6:
24927129-24927129

C

A

intronic

De novo

-

Yuen2017 G

RIPOR2

2-1182-003

chr6:
25066383-25066383

C

T

intergenic

De novo

-

Yuen2017 G

RIPOR2

2-1416-004

chr6:
24819885-24819885

A

G

intronic

De novo

-

Yuen2017 G

RIPOR2

2-0270-004

chr6:
24862415-24862415

G

GC

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIPOR2

2-1416-003A

chr6:
24819885-24819885

A

G

intronic

De novo

-

Trost2022 G

RIPOR2

111310

chr6:
24865642-24865642

G

A

exonic

nonsynonymous SNV

NM_001286445
NM_001286446
NM_001286447
NM_014722
NM_015864

c.C538T
c.C553T
c.C451T
c.C451T
c.C451T

p.R180C
p.R185C
p.R151C
p.R151C
p.R151C

24.4

8.661E-6

Woodbury-Smith2022 E

RIPOR2

5-5065-003

chr6:
24896231-24896231

A

C

intronic

De novo

-

Trost2022 G

RIPOR2

1-0446-003

chr6:
25008542-25008553

CTAAGTTAAGGG

C

intronic

De novo

-

Yuen2017 G

RIPOR2

3-0548-000

chr6:
24909828-24909828

C

T

intronic

De novo

-

Trost2022 G

RIPOR2

2-1169-004

chr6:
24862411-24862413

CCA

TGC

intronic

De novo

-

Trost2022 G

RIPOR2

2-1169-004

chr6:
24862415-24862415

G

GC

intronic

De novo

-

Trost2022 G

RIPOR2

REACH000601

chr6:
24839017-24839017

G

A

intronic

De novo

-

Trost2022 G

RIPOR2

SP0218302

chr6:
24852841-24852841

C

A

exonic

De novo

nonsynonymous SNV

NM_001286445
NM_001286446
NM_001286447
NM_014722
NM_015864

c.G721T
c.G736T
c.G634T
c.G634T
c.G634T

p.A241S
p.A246S
p.A212S
p.A212S
p.A212S

28.4

-

Trost2022 G

RIPOR2

1-0674-003

chr6:
24987266-24987266

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIPOR2

4-0062-003

chr6:
24823702-24823703

TT

CA

intronic

De novo

-

Trost2022 G

RIPOR2

1-0559-005

chr6:
24861092-24861092

C

T

intronic

De novo

-

Yuen2017 G

RIPOR2

3-0602-000

chr6:
24824381-24824381

T

G

intronic

De novo

-

Trost2022 G

RIPOR2

2-1068-003

chr6:
25007836-25007836

T

C

intronic

De novo

-

Trost2022 G

RIPOR2

SP0055021

chr6:
24825499-24825499

C

T

exonic

De novo

synonymous SNV

NM_001286445
NM_014722

c.G2823A
c.G2886A

p.T941T
p.T962T

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RIPOR2

MT_37.3

chr6:
25016769-25016769

A

G

intronic

De novo

-

Trost2022 G

RIPOR2

SP0015645

chr6:
24828518-24828518

G

C

exonic

nonsynonymous SNV

NM_001286445
NM_014722

c.C2512G
c.C2575G

p.R838G
p.R859G

11.78

-

Zhou2022 GE

RIPOR2

1-1129-003

chr6:
24943569-24943569

T

G

intronic

De novo

-

Trost2022 G

RIPOR2

2-1303-003

chr6:
25059306-25059306

C

T

intergenic

De novo

-

Yuen2017 G

RIPOR2

MSSNG00354-004

chr6:
24990118-24990118

C

G

intronic

De novo

-

Trost2022 G

RIPOR2

2-1723-003

chr6:
24942667-24942667

T

G

intronic

De novo

-

Trost2022 G

RIPOR2

1-0006-004

chr6:
24942667-24942667

T

G

intronic

De novo

-

Trost2022 G

RIPOR2

1-0414-005

chr6:
25055180-25055180

T

C

intergenic

De novo

-

Yuen2017 G

RIPOR2

1-0006-004

chr6:
24942663-24942664

CA

GG

intronic

De novo

-

Trost2022 G

RIPOR2

2-1723-003

chr6:
24942663-24942664

CA

GG

intronic

De novo

-

Trost2022 G

RIPOR2

AU1909304

chr6:
25039049-25039049

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIPOR2

MSSNG00339-004

chr6:
25024386-25024386

C

A

intronic

De novo

-

Trost2022 G

RIPOR2

REACH000222

chr6:
25042284-25042284

C

T

UTR5

De novo

-

Trost2022 G

RIPOR2

2-1189-003

chr6:
24946795-24946795

C

T

intronic

De novo

-

Yuen2016 G

RIPOR2

1-0763-003

chr6:
24858906-24858906

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIPOR2

2-0305-003

chr6:
24850330-24850330

T

TC

intronic

De novo

-

Yuen2017 G

RIPOR2

2-1089-003

chr6:
24828103-24828103

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIPOR2

SP0019308

chr6:
24861377-24861377

C

T

intronic

De novo

-

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
Curation notes	View
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