Variant Results

or

or

Results for "RBM25"

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

RBM25

4-0108-003

chr14:
73564069-73564069

C

T

intronic

De novo

-

-

Trost2022 G

RBM25

14590.p1

chr14:
73537493-73537493

A

G

intronic

De novo

-

-

Turner2016 G

RBM25

1-0323-003

chr14:
73527007-73527007

C

T

intronic

De novo

-

-

Yuen2017 G

RBM25

2-1341-004

chr14:
73531909-73531910

CT

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM25

3-0534-000

chr14:
73577197-73577197

A

G

intronic

De novo

-

-

Trost2022 G

RBM25

2-1243-003

chr14:
73532179-73532179

G

GC

intronic

De novo

-

-

Trost2022 G

RBM25

2-1659-003

chr14:
73547808-73547808

C

T

intronic

De novo

-

-

Trost2022 G

RBM25

2-1243-003

chr14:
73532164-73532167

TGCT

CG

intronic

De novo

-

-

Trost2022 G

RBM25

2-1243-003

chr14:
73532176-73532176

A

C

intronic

De novo

-

-

Trost2022 G

RBM25

14590.p1

chr14:
73537498-73537498

G

T

intronic

De novo

-

-

Turner2016 G

RBM25

14-613

chr14:
73530479-73530479

G

A

intronic

De novo

-

-

Trost2022 G

RBM25

14590.p1

chr14:
73537500-73537500

T

C

intronic

De novo

-

-

Turner2016 G

RBM25

2-1243-003

chr14:
73532157-73532157

T

G

intronic

De novo

-

-

Trost2022 G

RBM25

1-0139-003

chr14:
73552227-73552227

G

A

intronic

De novo

-

-

Yuen2017 G

RBM25

2-1525-003

chr14:
73552930-73552930

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM25

21742-34594

chr14:
73570005-73570005

C

T

exonic

Inherited

nonsynonymous SNV

NM_021239

c.C973T

p.R325W

15.97

-

Callaghan2019 G

RBM25

2-1297-004

chr14:
73552227-73552227

G

A

intronic

De novo

-

-

Yuen2017 G

RBM25

AU075703

chr14:
73532612-73532612

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM25

5-5154-003

chr14:
73584453-73584453

G

A

intronic

De novo

-

-

Trost2022 G

RBM25

SP0023707

chr14:
73576238-73576238

A

C

intronic

De novo

-

-

Fu2022 E

RBM25

7-0223-003

chr14:
73559601-73559601

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM25

AU4219302

chr14:
73589288-73589288

C

T

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM25

1-0435-003

chr14:
73558731-73558731

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM25

AU3915301

chr14:
73552780-73552780

C

T

intronic

De novo

-

-

Trost2022 G
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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