Variant Results

or

Results for "RBM27"

Variant Events: 23

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

RBM27

5-0020-003

chr5:
145587804-145587804

A

C

intronic

De novo

-

Trost2022 G

RBM27

SSC07063

chr5:
145613205-145613205

G

A

exonic

De novo

nonsynonymous SNV

NM_018989

c.G1043A

p.G348D

17.39

-

Fu2022 E
Lim2017 E
Trost2022 G

RBM27

REACH000089

chr5:
145594077-145594077

T

A

intronic

De novo

-

Trost2022 G

RBM27

2-1066-003

chr5:
145689528-145689528

T

G

intergenic

De novo

-

Yuen2017 G

RBM27

12497.p1

chr5:
145603023-145603023

C

T

exonic

De novo

nonsynonymous SNV

NM_018989

c.C236T

p.P79L

19.02

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RBM27

SSC06431

chr5:
145603023-145603023

C

T

exonic

De novo

nonsynonymous SNV

NM_018989

c.C236T

p.P79L

19.02

-

Fu2022 E
Lim2017 E
Trost2022 G

RBM27

Kim2020:B26

chr5:
145613207-145613207

C

A

exonic

De novo

nonsynonymous SNV

NM_018989

c.C1045A

p.P349T

18.0

-

Kim2020 E

RBM27

MSSNG00017-004

chr5:
145604752-145604752

T

C

intronic

De novo

-

Trost2022 G

RBM27

MSSNG00122-003

chr5:
145619690-145619690

T

C

intronic

De novo

-

Trost2022 G

RBM27

08C75913

chr5:
145583405-145583405

G

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

RBM27

7-0121-003

chr5:
145597188-145597188

C

A

intronic

De novo

-

Trost2022 G

RBM27

2-0036-003

chr5:
145636507-145636511

CTATT

C

intronic

De novo

-

Yuen2016 G

RBM27

AU2504301

chr5:
145600593-145600593

A

G

intronic

De novo

-

Trost2022 G

RBM27

2-0016-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

RBM27

2-0244-003

chr5:
145689528-145689528

T

G

intergenic

De novo

-

Yuen2017 G

RBM27

2-1291-003

chr5:
145603808-145603822

GTATATATATATATA

GTATATATATATA

intronic

De novo

-

Yuen2017 G

RBM27

AU3680301

chr5:
145661811-145661811

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBM27

13942.p1

chr5:
145598302-145598302

C

G

intronic

De novo

-

Turner2016 G

RBM27

13096.p1

chr5:
145613205-145613205

G

A

exonic

De novo

nonsynonymous SNV

NM_018989

c.G1043A

p.G348D

17.39

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RBM27

2-0320-003

chr5:
145629605-145629605

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBM27

SP0056567

chr5:
145609501-145609501

C

T

intronic

De novo

-

Fu2022 E

RBM27

SP0073901

chr5:
145609453-145609453

G

A

exonic

De novo

nonsynonymous SNV

NM_018989

c.G569A

p.R190Q

18.25

5.016E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

RBM27

AU1308303

chr5:
145638859-145638861

ACT

A

intronic

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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