Variant Results

or

or

Results for "RBM26"

Variant Events: 17

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

RBM26

2-1137-003

chr13:
79915038-79915038

G

T

intronic

De novo

-

-

Yuen2017 G

RBM26

2-1341-004

chr13:
79923670-79923670

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM26

AU2035302

chr13:
79912837-79912837

T

C

intronic

De novo

-

-

Yuen2017 G

RBM26

MT_109

chr13:
79916801-79916801

G

C

exonic

Maternal

nonsynonymous SNV

NM_001286632
NM_022118
NM_001286631

c.C2353G
c.C2344G
c.C2431G

p.Q785E
p.Q782E
p.Q811E

15.68

Toma2013 E

RBM26

2-0307-004

chr13:
79955263-79955263

C

CTAT

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM26

AU3680302

chr13:
79970464-79970464

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM26

2-1317-003

chr13:
79942627-79942627

G

T

intronic

De novo

-

-

Yuen2016 G

RBM26

J4K7A_01

chr13:
79949553-79949553

G

A

intronic

De novo

-

-

Trost2022 G

RBM26

MSSNG00349-004

chr13:
79958168-79958168

G

A

intronic

De novo

-

-

Trost2022 G

RBM26

1068012

chr13:
79929382-79929382

G

C

exonic

De novo

synonymous SNV

NM_001286631
NM_001286632
NM_022118

c.C1842G
c.C1827G
c.C1827G

p.T614T
p.T609T
p.T609T

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RBM26

SP0076587

chr13:
79894807-79894807

T

C

exonic

De novo

synonymous SNV

NM_001286632
NM_022118
NM_001286631

c.A2901G
c.A2892G
c.A2979G

p.Q967Q
p.Q964Q
p.Q993Q

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RBM26

REACH000605

chr13:
79928644-79928644

C

T

exonic

De novo

nonsynonymous SNV

NM_001286631
NM_001286632
NM_022118

c.G1922A
c.G1916A
c.G1907A

p.R641Q
p.R639Q
p.R636Q

28.9

Trost2022 G
Zhou2022 GE

RBM26

MT_31.3

chr13:
79935132-79935132

A

AT

intronic

De novo

-

-

Trost2022 G

RBM26

SJD_44.3

chr13:
79938563-79938563

G

A

intronic

De novo

-

-

Trost2022 G

RBM26

AU3695303

chr13:
79903227-79903227

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM26

AU2035301

chr13:
79912837-79912837

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RBM26

2-0307-003

chr13:
79955263-79955263

C

CTAT

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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