Variant Results

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Results for "UST"

Variant Events: 25

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

UST

2-0070-004

chr6:
149329455-149329467

GCCATTAAGTTTT

G

intronic

De novo

-

-

Yuen2017 G

UST

13332.p1

chr6:
149395031-149395031

G

A

exonic

Mosaic

nonsynonymous SNV

NM_005715

c.G1000A

p.V334M

15.67

-

Dou2017 E

UST

AU2333302

chr6:
149365600-149365600

A

G

intronic

De novo

-

-

Yuen2017 G

UST

AU045514

chr6:
149522487-149522487

C

A

intergenic

De novo

-

-

Yuen2017 G

UST

SP0021397

chr6:
149068803-149068803

G

A

exonic

De novo

synonymous SNV

NM_005715

c.G237A

p.R79R

-

-

Fu2022 E

UST

1-0547-003

chr6:
149309871-149309871

C

T

intronic

De novo

-

-

Yuen2017 G

UST

1-0252-003

chr6:
149159646-149159646

A

ATC

intronic

De novo

-

-

Yuen2017 G

UST

1-0513-003

chr6:
149094752-149094752

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

UST

AU3371301

chr6:
149197117-149197117

T

G

intronic

De novo

-

-

Yuen2017 G

UST

7-0253-005

chr6:
149071458-149071458

C

T

intronic

De novo

-

-

Yuen2017 G

UST

AU046703

chr6:
149514539-149514539

G

A

intergenic

De novo

-

-

Yuen2017 G

UST

12529.p1

chr6:
149376596-149376596

C

G

intronic

De novo

-

-

Turner2016 G

UST

2-1364-003

chr6:
149188291-149188291

C

T

intronic

De novo

-

-

Yuen2017 G

UST

12529.p1

chr6:
149376406-149376406

C

G

intronic

De novo

-

-

Turner2016 G

UST

AU4029301

chr6:
149223336-149223336

A

G

intronic

De novo

-

-

Yuen2017 G

UST

AU060004

chr6:
149205305-149205305

A

C

intronic

De novo

-

-

Yuen2017 G

UST

1-0965-003

chr6:
149418469-149418469

G

A

intergenic

De novo

-

-

Yuen2017 G

UST

2-1506-003

chr6:
149324892-149324892

C

T

intronic

De novo

-

-

Yuen2017 G

UST

5-0055-004

chr6:
149349975-149349975

T

C

intronic

De novo

-

-

Yuen2017 G

UST

2-1341-004

chr6:
149116713-149116713

G

A

intronic

De novo

-

-

Yuen2017 G

UST

1-0269-003

chr6:
149086730-149086730

A

G

intronic

De novo

-

-

Yuen2017 G

UST

11475.p1

chr6:
149274966-149274966

A

T

intronic

De novo

-

Satterstrom2020 E

UST

AU1668302

chr6:
149489063-149489074

AATATATATATA

AATATATATA

intergenic

De novo

-

-

Yuen2017 G

UST

2-1299-003

chr6:
149231114-149231116

CTG

C

intronic

De novo

-

-

Yuen2017 G

UST

12871.p1

chr6:
149219069-149219069

A

G

intronic

De novo

-

-

Wilfert2021 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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