Variant Results

or

or

Results for "RYBP"

Variant Events: 29

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

RYBP

mAGRE5486

chr3:
72427561-72427561

G

C

exonic

Paternal

stopgain

NM_012234

c.C632G

p.S211X

-

-

Cirnigliaro2023 G

RYBP

mAGRE5485

chr3:
72427561-72427561

G

C

exonic

Paternal

stopgain

NM_012234

c.C632G

p.S211X

-

-

Cirnigliaro2023 G

RYBP

2-1241-003

chr3:
72456348-72456348

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

RYBP

3-0456-000B

chr3:
72678611-72678611

A

C

intergenic

De novo

-

-

Yuen2017 G

RYBP

AU056005

chr3:
72609308-72609308

C

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

2-1235-003

chr3:
72742276-72742276

T

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

3-0456-000

chr3:
72678611-72678611

A

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RYBP

AU3713301

chr3:
72625647-72625654

TTTTATTT

TTTT

intergenic

De novo

-

-

Yuen2017 G

RYBP

1-0380-003

chr3:
72470422-72470422

C

T

intronic

De novo

-

-

Yuen2017 G

RYBP

1-0336-003

chr3:
72639185-72639185

A

G

intergenic

De novo

-

-

Yuen2017 G

RYBP

2-1502-003

chr3:
72588526-72588526

G

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

AU3692301

chr3:
72496004-72496004

G

C

upstream

De novo

-

-

Yuen2017 G
Zhou2022 GE

RYBP

AU071703

chr3:
72788792-72788792

C

CAGAG

intergenic

De novo

-

-

Yuen2017 G

RYBP

2-0309-004

chr3:
72733364-72733364

G

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

AU4235303

chr3:
72678596-72678596

T

C

intergenic

De novo

-

-

Yuen2017 G

RYBP

2-1288-003

chr3:
72527304-72527304

G

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

1-0604-003

chr3:
72458469-72458469

G

A

intronic

De novo

-

-

Yuen2017 G

RYBP

2-1117-003

chr3:
72504123-72504123

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RYBP

DEASD_1096_001

chr3:
72427578-72427578

C

CGACAT

exonic

De novo

frameshift insertion

NM_012234

c.614_615insATGTC

p.T205fs

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RYBP

A12

chr3:
72650296-72650296

G

A

intergenic

De novo

-

-

Wu2018 G

RYBP

2-1702-003

chr3:
72648795-72648795

G

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

AU4263304

chr3:
72507051-72507051

G

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

AU034903

chr3:
72623627-72623627

G

A

intergenic

De novo

-

-

Yuen2017 G

RYBP

2-1461-003

chr3:
72735397-72735397

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RYBP

2-0045-003

chr3:
72505606-72505606

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RYBP

2-1729-003

chr3:
72718421-72718421

A

G

intergenic

De novo

-

-

Yuen2017 G

RYBP

1-0597-003

chr3:
72641635-72641635

T

C

intergenic

De novo

-

-

Yuen2017 G

RYBP

5-0017-004

chr3:
72677320-72677320

C

T

intergenic

De novo

-

-

Yuen2017 G

RYBP

AU3368303

chr3:
72498856-72498856

A

G

intergenic

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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