Variant Results

or

Results for "URB2"

Variant Events: 46

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

URB2

1-0539-003

chr1:
230107682-230107682

C

CACATACGCAT

intergenic

De novo

-

Yuen2017 G

URB2

1-0403-003

chr1:
229786910-229786910

T

G

intronic

De novo

-

Yuen2017 G

URB2

2-1182-003

chr1:
230163908-230163908

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

URB2

2-1252-003

chr1:
230006540-230006540

G

A

intergenic

De novo

-

Yuen2017 G

URB2

2-0503-003

chr1:
230107682-230107682

C

CACATACGCAT

intergenic

De novo

-

Yuen2017 G

URB2

7-0002-003

chr1:
229825068-229825068

T

G

intergenic

De novo

-

Yuen2017 G

URB2

3-0134-000

chr1:
230006781-230006781

C

CATAACACAGGTGAA

intergenic

De novo

-

Yuen2017 G

URB2

1-0339-003

chr1:
230119217-230119217

T

G

intergenic

De novo

-

Yuen2017 G

URB2

11341.p1

chr1:
229987987-229987987

A

T

intergenic

De novo

-

Turner2016 G

URB2

AU3951301

chr1:
230012103-230012103

C

T

intergenic

De novo

-

Yuen2017 G

URB2

Uddin2014:55

chr1:
229783350-229783350

G

T

exonic

De novo

stopgain

NM_001314021
NM_014777

c.G4000T
c.G4000T

p.E1334X
p.E1334X

44.0

-

Uddin2014 E

URB2

2-1261-003

chr1:
230006719-230006719

C

CAA

intergenic

De novo

-

Yuen2017 G

URB2

1-0458-003

chr1:
230001621-230001621

C

T

intergenic

De novo

-

Yuen2017 G

URB2

1-0551-003

chr1:
229792468-229792468

G

C

intronic

De novo

-

Yuen2017 G

URB2

AU031204

chr1:
229900546-229900546

G

T

intergenic

De novo

-

Yuen2017 G

URB2

13942.p1

chr1:
230032826-230032826

C

T

intergenic

De novo

-

Turner2016 G

URB2

5-0111-003

chr1:
230044597-230044597

G

A

intergenic

De novo

-

Yuen2017 G

URB2

AU3858303

chr1:
229969123-229969125

TCC

TC

intergenic

De novo

-

Yuen2017 G

URB2

2-0202-004

chr1:
230107705-230107716

CACCATGTACAT

C

intergenic

De novo

-

Yuen2017 G

URB2

2-1720-003

chr1:
229810054-229810054

C

A

intergenic

De novo

-

Yuen2017 G

URB2

1-0595-005

chr1:
230006726-230006727

AT

A

intergenic

De novo

-

Yuen2017 G

URB2

2-1343-003

chr1:
229866089-229866089

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

URB2

2-0198-004

chr1:
230107705-230107716

CACCATGTACAT

C

intergenic

De novo

-

Yuen2017 G

URB2

1-0339-004

chr1:
229879828-229879828

A

G

intergenic

De novo

-

Yuen2017 G

URB2

2-1174-006

chr1:
230001621-230001621

C

T

intergenic

De novo

-

Yuen2017 G

URB2

2-1264-003

chr1:
229874371-229874371

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

URB2

2-1335-004

chr1:
230006665-230006665

T

TACAACACACACACAACACACAACACACAACATATACACTCAACACAC

intergenic

De novo

-

Yuen2017 G

URB2

2-0208-003

chr1:
229788284-229788284

C

T

intronic

De novo

-

Yuen2017 G

URB2

SP0094767

chr1:
229772973-229772973

C

G

exonic

De novo

synonymous SNV

NM_001314021
NM_014777

c.C2613G
c.C2613G

p.A871A
p.A871A

-

Fu2022 E

URB2

SP0118723

chr1:
229770752-229770752

C

T

exonic

De novo

nonsynonymous SNV

NM_001314021
NM_014777

c.C392T
c.C392T

p.S131L
p.S131L

16.96

5.038E-5

Fu2022 E

URB2

1-0043-003

chr1:
230107705-230107716

CACCATGTACAT

C

intergenic

De novo

-

Yuen2017 G

URB2

1-0405-003

chr1:
230107682-230107682

C

CACATACGCAT

intergenic

De novo

-

Yuen2017 G

URB2

5-0055-003

chr1:
230006746-230006746

A

ATAAC

intergenic

De novo

-

Yuen2017 G

URB2

DEASD_1110_001

chr1:
229781580-229781580

G

A

intronic

De novo

-

8.243E-6

Satterstrom2020 E

URB2

1-0554-003

chr1:
230188226-230188226

C

T

intergenic

De novo

-

Yuen2017 G

URB2

2-1300-003

chr1:
230072499-230072499

C

T

intergenic

De novo

-

Yuen2017 G

URB2

74-0265

chr1:
230106544-230106544

A

T

intergenic

De novo

-

Michaelson2012 G

URB2

2-1690-003

chr1:
230147157-230147157

G

A

intergenic

De novo

-

Yuen2017 G

URB2

2-1409-003

chr1:
229766435-229766435

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

URB2

2-1339-003

chr1:
229987728-229987728

G

C

intergenic

De novo

-

Yuen2017 G

URB2

2-0198-003

chr1:
230107682-230107682

C

CACATACGCAT

intergenic

De novo

-

Yuen2017 G

URB2

2-1644-003

chr1:
230006730-230006730

A

ACATG

intergenic

De novo

-

Yuen2017 G

URB2

AU048206

chr1:
230029254-230029254

C

T

intergenic

De novo

-

Yuen2017 G

URB2

7-0130-003

chr1:
230006719-230006719

C

CAA

intergenic

De novo

-

Yuen2017 G

URB2

1-0625-003

chr1:
230006540-230006540

G

A

intergenic

De novo

-

Yuen2017 G

URB2

AU069603

chr1:
230019382-230019382

A

G

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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