Variant Results

or

Results for "URB1"

Variant Events: 27

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

URB1

SMHC00831d000

chr21:
33687357-33687357

G

A

exonic

De novo

stopgain

NM_014825

c.C6688T

p.Q2230X

44.0

5.681E-5

Yuan2023 E

URB1

1-0466-003

chr21:
33701358-33701358

G

A

intronic

De novo

-

Yuen2017 G

URB1

AU4479301

chr21:
33708037-33708037

C

T

intronic

De novo

-

Yuen2017 G

URB1

14186.p1

chr21:
33689095-33689095

G

A

exonic

De novo

nonsynonymous SNV

NM_014825

c.C6316T

p.R2106W

13.79

5.199E-5

Satterstrom2020 E
Zhou2022 GE

URB1

12613.p1

chr21:
33733358-33733358

C

T

exonic

De novo

nonsynonymous SNV

NM_014825

c.G1714A

p.V572M

4.928

3.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

URB1

13672.p1

chr21:
33757868-33757868

G

A

exonic

De novo

stopgain

NM_014825

c.C268T

p.R90X

37.0

4.409E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

URB1

7-0167-003

chr21:
33698628-33698628

C

A

intronic

De novo

-

Yuen2017 G

URB1

REACH000224

chr21:
33683609-33683609

C

T

UTR3

De novo

-

Trost2022 G

URB1

Cukier2014:18074

chr21:
33711126-33711126

G

A

exonic

Unknown

nonsynonymous SNV

NM_014825

c.C4400T

p.T1467M

11.32

0.0036

Cukier2014 E

URB1

mAGRE5710

chr21:
33740739-33740739

C

T

exonic

Maternal

stopgain

NM_014825

c.G1170A

p.W390X

38.0

-

Cirnigliaro2023 G

URB1

MT_172.3

chr21:
33735540-33735540

C

T

exonic

synonymous SNV

NM_014825

c.G1434A

p.V478V

-

Zhou2022 GE

URB1

mAGRE5709

chr21:
33740739-33740739

C

T

exonic

Maternal

stopgain

NM_014825

c.G1170A

p.W390X

38.0

-

Cirnigliaro2023 G

URB1

13672_p1

chr21:
33757868-33757868

G

A

exonic

De novo

stopgain

NM_014825

c.C268T

p.R90X

37.0

4.409E-5

Fu2022 E

URB1

mAGRE4730

chr21:
33740739-33740739

C

T

exonic

Maternal

stopgain

NM_014825

c.G1170A

p.W390X

38.0

-

Cirnigliaro2023 G

URB1

AU066818

chr21:
33734238-33734238

G

A

exonic

De novo

synonymous SNV

NM_014825

c.C1602T

p.S534S

-

4.601E-5

Yuen2017 G
Zhou2022 GE

URB1

B222603

chr21:
33694197-33694197

G

A

exonic

De novo

stopgain

NM_014825

c.C5398T

p.Q1800X

45.0

-

Fu2022 E

URB1

PN400144

chr21:
33697576-33697576

G

A

exonic

Inherited

nonsynonymous SNV

NM_014825

c.C5084T

p.S1695L

17.73

0.0077

Leblond2019 E

URB1

SP0010331

chr21:
33720078-33720078

G

T

exonic

De novo

nonsynonymous SNV

NM_014825

c.C3055A

p.L1019M

19.35

-

Fu2022 E
Zhou2022 GE

URB1

Wang2023:831

chr21:
33687357-33687357

G

A

exonic

De novo

stopgain

NM_014825

c.C6688T

p.Q2230X

44.0

5.681E-5

Wang2023 E

URB1

SP0114384

chr21:
33694067-33694067

G

A

intronic

De novo

-

Fu2022 E

URB1

SP0031534

chr21:
33734306-33734306

C

T

exonic

De novo

nonsynonymous SNV

NM_014825

c.G1534A

p.V512M

18.36

-

Fu2022 E
Zhou2022 GE

URB1

10008502658576462-C

chr21:
33691546-33691546

C

A

exonic

De novo

nonsynonymous SNV

NM_014825

c.G5773T

p.V1925L

10.91

-

Fu2022 E

URB1

2-1336-004

chr21:
33710519-33710519

T

A

intronic

De novo

-

Yuen2017 G

URB1

SSC10903

chr21:
33689095-33689095

G

A

exonic

De novo

nonsynonymous SNV

NM_014825

c.C6316T

p.R2106W

13.79

5.199E-5

Fu2022 E
Trost2022 G

URB1

SSC07140

chr21:
33733358-33733358

C

T

exonic

De novo

nonsynonymous SNV

NM_014825

c.G1714A

p.V572M

4.928

3.0E-4

Fu2022 E
Trost2022 G

URB1

Codina-Sola2015:ASD_8

chr21:
33757882-33757883

AG

A

exonic

Maternal

stopgain

NM_014825

c.253delC

p.L85X

-

Codina-Sola2015 E

URB1

2-0295-003

chr21:
33712783-33712783

A

G

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
	More