Variant Results

or

or

Results for "RUNDC3B"

Variant Events: 21

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

RUNDC3B

14667.p1

chr7:
87339897-87339897

G

A

exonic

De novo

stopgain

NM_001134405
NM_001134406
NM_138290

c.G384A
c.G384A
c.G435A

p.W128X
p.W128X
p.W145X

41.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

RUNDC3B

2-1168-003

chr7:
87415343-87415343

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

RUNDC3B

2-1502-003

chr7:
87343803-87343803

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RUNDC3B

A1

chr7:
87366998-87366998

G

A

intronic

De novo

-

-

Wu2018 G

RUNDC3B

2-1290-004

chr7:
87461868-87461868

T

TTTAA

downstream

De novo

-

-

Yuen2017 G

RUNDC3B

1-1058-003

chr7:
87388058-87388058

A

T

intronic

De novo

-

-

Trost2022 G

RUNDC3B

AU3918301

chr7:
87438266-87438266

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RUNDC3B

3-0728-000

chr7:
87428846-87428846

G

T

intronic

De novo

-

-

Trost2022 G

RUNDC3B

7-0387-004

chr7:
87357377-87357377

T

C

intronic

De novo

-

-

Trost2022 G

RUNDC3B

1-0599-005

chr7:
87367785-87367785

C

T

intronic

De novo

-

-

Trost2022 G

RUNDC3B

AM02ZF-03

chr7:
87345208-87345208

C

T

intronic

De novo

-

-

Trost2022 G

RUNDC3B

SJD_49.4

chr7:
87258209-87258209

C

T

exonic

De novo

synonymous SNV

NM_001134405
NM_001134406
NM_138290

c.C70T
c.C70T
c.C70T

p.L24L
p.L24L
p.L24L

-

Trost2022 G
Trost2022 G
Zhou2022 GE

RUNDC3B

5-0038-003

chr7:
87346279-87346279

A

C

intronic

De novo

-

-

Trost2022 G

RUNDC3B

70533

chr7:
87339897-87339897

G

A

exonic

De novo

stopgain

NM_001134405
NM_001134406
NM_138290

c.G384A
c.G384A
c.G435A

p.W128X
p.W128X
p.W145X

41.0

-

Trost2022 G

RUNDC3B

3-0482-000

chr7:
87361751-87361751

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RUNDC3B

5-0077-004

chr7:
87441450-87441450

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RUNDC3B

2-1807-003

chr7:
87438900-87438900

T

C

intronic

De novo

-

-

Trost2022 G

RUNDC3B

SSC07526

chr7:
87459368-87459368

A

C

UTR3

De novo

-

-

Trost2022 G

RUNDC3B

5-1003-003

chr7:
87434867-87434868

CA

AT

intronic

De novo

-

-

Trost2022 G

RUNDC3B

13129.p1

chr7:
87459368-87459368

A

C

UTR3

De novo

-

-

Satterstrom2020 E

RUNDC3B

2-1192-003

chr7:
87434867-87434868

CA

AT

intronic

De novo

-

-

Trost2022 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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