Variant Results

or

Results for "UBR1"

Variant Events: 41

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

UBR1

AU3051303

chr15:
43282754-43282754

G

A

intronic

De novo

-

Yuen2017 G

UBR1

AU3875301

chr15:
43338404-43338404

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

AU4343302

chr15:
43319762-43319762

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

SP0337808

chr15:
43244638-43244638

C

T

exonic

nonsynonymous SNV

NM_174916

c.G4844A

p.R1615Q

17.21

-

Zhou2022 GE

UBR1

mAGRE2253

chr15:
43252854-43252854

G

GT

exonic

Maternal

frameshift insertion

NM_174916

c.4745dupA

p.N1582fs

-

Cirnigliaro2023 G

UBR1

08C74665

chr15:
43317109-43317109

A

G

exonic

De novo

nonsynonymous SNV

NM_174916

c.T2657C

p.I886T

17.75

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR1

1-0563-004

chr15:
43353286-43353288

CAG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

MAC961

chr15:
43256165-43256165

T

C

exonic

De novo

synonymous SNV

NM_174916

c.A4668G

p.E1556E

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR1

502-05-104237

chr15:
43270098-43270098

T

C

exonic

De novo

nonsynonymous SNV

NM_174916

c.A4198G

p.I1400V

8.364

8.3E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR1

mAGRE2255

chr15:
43252854-43252854

G

GT

exonic

Maternal

frameshift insertion

NM_174916

c.4745dupA

p.N1582fs

-

Cirnigliaro2023 G

UBR1

5-5065-003

chr15:
43295500-43295500

C

T

intronic

De novo

-

Trost2022 G

UBR1

7-0274-003

chr15:
43339224-43339224

G

C

intronic

De novo

-

Trost2022 G

UBR1

5-5154-003

chr15:
43274629-43274629

T

A

intronic

De novo

-

Trost2022 G

UBR1

1-0549-003

chr15:
43276691-43276691

T

C

intronic

De novo

-

Trost2022 G

UBR1

AU2718301

chr15:
43266849-43266849

C

T

intronic

De novo

-

Trost2022 G

UBR1

AU4242302

chr15:
43319445-43319445

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

AU2463301

chr15:
43270512-43270512

G

A

intronic

De novo

-

Trost2022 G

UBR1

1-1213-003

chr15:
43254542-43254542

G

A

intronic

De novo

-

Trost2022 G

UBR1

1-0595-005

chr15:
43357720-43357720

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

iHART2253

chr15:
43252854-43252854

G

GT

exonic

Maternal

frameshift insertion

NM_174916

c.4745dupA

p.N1582fs

-

Ruzzo2019 G

UBR1

2-1131-003

chr15:
43373145-43373145

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

UBR1

iHART2255

chr15:
43252854-43252854

G

GT

exonic

Maternal

frameshift insertion

NM_174916

c.4745dupA

p.N1582fs

-

Ruzzo2019 G

UBR1

SP0051533

chr15:
43378118-43378120

CAA

C

intronic

De novo

-

Trost2022 G

UBR1

1-0629-003

chr15:
43414416-43414417

CT

C

intergenic

De novo

-

Yuen2017 G

UBR1

4-0062-003

chr15:
43355011-43355013

TTT

AAA

intronic

De novo

-

Trost2022 G

UBR1

1-0006-004

chr15:
43355916-43355916

C

CT

intronic

De novo

-

Trost2022 G

UBR1

2-1506-003

chr15:
43390143-43390143

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

REACH000540

chr15:
43343791-43343791

A

T

intronic

De novo

-

Trost2022 G

UBR1

7-0286-003A

chr15:
43346756-43346756

A

T

intronic

De novo

-

Trost2022 G

UBR1

SP0085920

chr15:
43318765-43318765

A

G

exonic

De novo

synonymous SNV

NM_174916

c.T2529C

p.H843H

-

Fu2022 E
Zhou2022 GE

UBR1

SP0126501

chr15:
43299281-43299281

T

G

exonic

De novo

synonymous SNV

NM_174916

c.A3411C

p.S1137S

-

Fu2022 E

UBR1

1-0044-003

chr15:
43263361-43263361

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

2-0295-003

chr15:
43396452-43396452

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

SP0087659

chr15:
43252954-43252954

A

G

intronic

De novo

-

Fu2022 E

UBR1

1-0563-003

chr15:
43353286-43353288

CAG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

1-0683-004

chr15:
43315354-43315354

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR1

SP0074175

chr15:
43363053-43363053

T

C

exonic

De novo

nonsynonymous SNV

NM_174916

c.A599G

p.Y200C

19.96

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UBR1

MT_21.3

chr15:
43328431-43328431

A

G

exonic

De novo

nonsynonymous SNV

NM_174916

c.T2135C

p.L712P

21.6

-

Trost2022 G
Zhou2022 GE

UBR1

AU2500301

chr15:
43317109-43317109

A

G

exonic

nonsynonymous SNV

NM_174916

c.T2657C

p.I886T

17.75

-

Zhou2022 GE

UBR1

MSSNG00051-003

chr15:
43270098-43270098

T

C

exonic

nonsynonymous SNV

NM_174916

c.A4198G

p.I1400V

8.364

8.3E-6

Zhou2022 GE

UBR1

7-0249-003

chr15:
43411785-43411785

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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