Variant Results

or

Results for "RBM19"

Variant Events: 44

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

RBM19

AU4465303

chr12:
114540105-114540105

T

C

intergenic

De novo

-

Yuen2017 G

RBM19

5-0050-004

chr12:
114626458-114626458

T

C

intergenic

De novo

-

Yuen2017 G

RBM19

1-0489-003

chr12:
114524636-114524636

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RBM19

3-0458-000A

chr12:
114379456-114379484

CTCCATCCATCCATCCATCCATCCATCCA

CTCCATCCATCCATCCATCCATCCA

intronic

De novo

-

Yuen2017 G

RBM19

AU3782302

chr12:
114519085-114519085

G

A

intergenic

De novo

-

Yuen2017 G

RBM19

AU3846303

chr12:
114405464-114405464

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

1-0224-004

chr12:
114415469-114415469

A

G

intergenic

De novo

-

Yuen2017 G

RBM19

AU4069302

chr12:
114501628-114501628

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

1-0336-003

chr12:
114739572-114739572

C

A

intergenic

De novo

-

Yuen2017 G

RBM19

SP0077402

chr12:
114261147-114261147

A

C

intronic

De novo

-

Fu2022 E

RBM19

SP0066387

chr12:
114395775-114395775

C

G

exonic

De novo

nonsynonymous SNV

NM_001146698
NM_001146699
NM_016196

c.G652C
c.G652C
c.G652C

p.A218P
p.A218P
p.A218P

5.384

2.0E-4

Fu2022 E

RBM19

AU2485305

chr12:
114329327-114329327

G

C

intronic

De novo

-

Yuen2017 G

RBM19

12498.p1

chr12:
114566829-114566829

T

A

intergenic

De novo

-

Turner2016 G

RBM19

2-1105-003

chr12:
114362501-114362501

C

T

splicing

De novo

splicing

13.94

-

Yuen2016 G
Yuen2017 G

RBM19

AU2863302

chr12:
114376297-114376297

T

C

intronic

De novo

-

Yuen2017 G

RBM19

1-0912-003

chr12:
114603569-114603569

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

A8

chr12:
114705420-114705420

G

C

intergenic

De novo

-

Wu2018 G

RBM19

2-0295-003

chr12:
114612331-114612331

C

A

intergenic

De novo

-

Yuen2017 G

RBM19

AU4433301

chr12:
114269776-114269777

AC

ACC

intronic

De novo

-

Yuen2017 G

RBM19

7-0044-003

chr12:
114307411-114307411

G

A

intronic

De novo

-

Yuen2017 G

RBM19

111505

chr12:
114365024-114365024

G

A

exonic

De novo

synonymous SNV

NM_001146698
NM_001146699
NM_016196

c.C2079T
c.C2079T
c.C2079T

p.G693G
p.G693G
p.G693G

-

Fu2022 E

RBM19

AU3451301

chr12:
114554123-114554123

G

T

intergenic

De novo

-

Yuen2017 G

RBM19

AU048206

chr12:
114677795-114677795

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

2-1277-004

chr12:
114551165-114551165

G

A

intergenic

De novo

-

Yuen2017 G

RBM19

3-0431-000

chr12:
114626293-114626293

A

G

intergenic

De novo

-

Yuen2017 G

RBM19

AU4376301

chr12:
114402405-114402405

T

G

intronic

De novo

-

Yuen2017 G

RBM19

2-0007-003

chr12:
114548070-114548070

A

G

intergenic

De novo

-

Yuen2017 G

RBM19

AU4376301

chr12:
114437091-114437091

G

A

intergenic

De novo

-

Yuen2017 G

RBM19

AU0780301

chr12:
114483703-114483703

C

G

intergenic

De novo

-

Yuen2017 G

RBM19

2-1451-003

chr12:
114786986-114786986

G

A

intergenic

De novo

-

Yuen2017 G

RBM19

AU4496301

chr12:
114297295-114297295

G

A

intronic

De novo

-

Yuen2017 G

RBM19

AU101A

chr12:
114397232-114397232

G

A

intronic

De novo

-

2.536E-5

Kosmicki2017 E
Satterstrom2020 E

RBM19

2-1451-003

chr12:
114783342-114783342

G

A

intergenic

De novo

-

Yuen2017 G

RBM19

AU4093304

chr12:
114649651-114649662

GGAGGACATGAG

GGAG

intergenic

De novo

-

Yuen2017 G

RBM19

AU4496301

chr12:
114557508-114557508

G

A

intergenic

De novo

-

Yuen2017 G

RBM19

09C96031

chr12:
114398011-114398011

A

C

intronic

De novo

-

3.0E-4

Kosmicki2017 E

RBM19

2-1452-003

chr12:
114352870-114352870

C

T

exonic

De novo

nonsynonymous SNV

NM_001146698
NM_001146699
NM_016196

c.G2462A
c.G2462A
c.G2462A

p.R821Q
p.R821Q
p.R821Q

15.49

2.0E-4

Yuen2016 G
Yuen2017 G

RBM19

2-1451-004

chr12:
114657799-114657799

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

AU2525302

chr12:
114608656-114608656

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

2-1275-003

chr12:
114726478-114726478

G

A

intergenic

De novo

-

Yuen2017 G

RBM19

5-0025-003

chr12:
114788494-114788494

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

AU4473301

chr12:
114497397-114497397

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

1-0699-003

chr12:
114412461-114412461

C

T

intergenic

De novo

-

Yuen2017 G

RBM19

AU4150301

chr12:
114558088-114558088

T

C

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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