Variant Results

or

Results for "UGGT1"

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

UGGT1

SP0115667

chr2:
128870792-128870792

A

G

exonic

De novo

nonsynonymous SNV

NM_020120

c.A656G

p.N219S

9.846

8.245E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

UGGT1

1-0582-003

chr2:
128992100-128992100

G

C

intergenic

De novo

-

Yuen2017 G

UGGT1

6263

chr2:
128938561-128938561

G

A

exonic

De novo

nonsynonymous SNV

NM_020120

c.G3998A

p.R1333H

22.0

-

Fu2022 E

UGGT1

AU038203

chr2:
129018535-129018535

T

A

intergenic

De novo

-

Yuen2017 G

UGGT1

1-0104-004

chr2:
128874140-128874140

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

SP0067090

chr2:
128947412-128947412

C

T

UTR3

De novo

-

Fu2022 E

UGGT1

SP0043315

chr2:
128944259-128944259

T

C

exonic

De novo

synonymous SNV

NM_020120

c.T4362C

p.D1454D

13.77

-

Fu2022 E
Zhou2022 GE

UGGT1

2-0309-004

chr2:
128923777-128923777

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

SP0091863

chr2:
128918615-128918615

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

UGGT1

1-0936-003

chr2:
128927085-128927085

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

2-1508-003

chr2:
128914690-128914690

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

1-0382-003

chr2:
128928225-128928225

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

MSSNG00251-003

chr2:
128947735-128947735

G

T

UTR3

De novo

-

Trost2022 G

UGGT1

SP0183664

chr2:
128910451-128910451

C

T

exonic

De novo

stopgain

NM_020120

c.C2110T

p.R704X

39.0

-

Trost2022 G

UGGT1

AU4168306

chr2:
128898416-128898416

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

SP0230989

chr2:
128922403-128922403

T

G

intronic

De novo

-

Trost2022 G

UGGT1

2-0309-005

chr2:
128904364-128904364

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

3-0209-000

chr2:
128877625-128877625

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

MSSNG00203-003

chr2:
128850976-128850976

T

C

intronic

De novo

-

Trost2022 G

UGGT1

1-0188-003

chr2:
128881853-128881853

T

TACAATATTGGC

intronic

De novo

-

Trost2022 G

UGGT1

13274.p1

chr2:
128938561-128938561

G

A

exonic

De novo

nonsynonymous SNV

NM_020120

c.G3998A

p.R1333H

22.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
Zhou2022 GE

UGGT1

1-0479-006

chr2:
128853050-128853050

C

T

intronic

De novo

-

Yuen2017 G

UGGT1

7-0192-003

chr2:
128992026-128992026

T

C

intergenic

De novo

-

Yuen2017 G

UGGT1

SP0060679

chr2:
128930146-128930146

G

C

splicing

27.0

-

Zhou2022 GE

UGGT1

DEASD_0088_001

chr2:
128917217-128917220

TTCA

T

exonic

De novo

nonframeshift deletion

NM_020120

c.2486_2488del

p.829_830del

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UGGT1

2-1734-003

chr2:
128952848-128952848

T

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

UGGT1

Lim2017:6263

chr2:
128938561-128938561

G

A

exonic

De novo

nonsynonymous SNV

NM_020120

c.G3998A

p.R1333H

22.0

-

Lim2017 E

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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