Variant Results

or

Results for "ATXN1"

Variant Events: 36

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

ATXN1

Kim2020:B26

chr6:
16306868-16306868

C

T

exonic

De novo

nonsynonymous SNV

NM_001128164
NM_000332

c.G2140A
c.G2140A

p.D714N
p.D714N

19.29

-

Kim2020 E

ATXN1

AU3912303

chr6:
16567975-16567975

G

A

intronic

De novo

-

Yuen2017 G

ATXN1

3165_17au

chr6:
16306707-16306707

C

T

exonic

De novo

synonymous SNV

NM_001128164
NM_000332

c.G2301A
c.G2301A

p.A767A
p.A767A

-

Fu2022 E

ATXN1

1-0534-004

chr6:
17070742-17070744

CCT

C

intergenic

De novo

-

Yuen2017 G

ATXN1

SP0013161

chr6:
16328492-16328492

C

T

exonic

De novo

nonsynonymous SNV

NM_001128164
NM_000332

c.G50A
c.G50A

p.R17H
p.R17H

33.0

-

Fu2022 E

ATXN1

AU4463303

chr6:
17026207-17026207

A

T

intergenic

De novo

-

Yuen2017 G

ATXN1

AU4463303

chr6:
17032047-17032047

G

C

intergenic

De novo

-

Yuen2017 G

ATXN1

SP0028946

chr6:
16327214-16327214

G

A

exonic

De novo

nonsynonymous SNV

NM_001128164
NM_000332

c.C1328T
c.C1328T

p.P443L
p.P443L

15.36

8.243E-6

Fu2022 E

ATXN1

2-1359-003

chr6:
16656333-16656334

AC

A

intronic

De novo

-

Yuen2017 G

ATXN1

1-0377-003

chr6:
16523196-16523196

T

C

intronic

De novo

-

Yuen2017 G

ATXN1

1-0253-005

chr6:
16384412-16384412

T

C

intronic

De novo

-

Yuen2017 G

ATXN1

AU3900302

chr6:
16748161-16748161

G

A

intronic

De novo

-

Yuen2017 G

ATXN1

2-1591-003

chr6:
17046431-17046431

G

A

intergenic

De novo

-

Yuen2017 G

ATXN1

2-1626-003

chr6:
17038267-17038267

T

G

intergenic

De novo

-

Yuen2017 G

ATXN1

5-0041-003

chr6:
16976427-16976427

T

G

intergenic

De novo

-

Yuen2017 G

ATXN1

AU1933301

chr6:
16942570-16942570

T

C

intergenic

De novo

-

Yuen2017 G

ATXN1

1-0455-003

chr6:
16865806-16865806

C

T

intergenic

De novo

-

Yuen2017 G

ATXN1

5-0133-003

chr6:
16766678-16766678

G

C

intergenic

De novo

-

Yuen2017 G

ATXN1

2-1362-003

chr6:
16388695-16388695

G

A

intronic

De novo

-

Yuen2017 G

ATXN1

AU4054302

chr6:
16461515-16461515

C

T

intronic

De novo

-

Yuen2017 G

ATXN1

AU4129303

chr6:
17092259-17092259

C

T

intergenic

De novo

-

Yuen2017 G

ATXN1

1-0054-003

chr6:
16453147-16453147

T

C

intronic

De novo

-

Yuen2017 G

ATXN1

AU3918302

chr6:
16370206-16370206

G

A

intronic

De novo

-

Yuen2017 G

ATXN1

AU4069301

chr6:
16497779-16497779

G

C

intronic

De novo

-

Yuen2017 G

ATXN1

1-0534-003

chr6:
17070742-17070744

CCT

C

intergenic

De novo

-

Yuen2017 G

ATXN1

5-0030-003

chr6:
16663860-16663860

G

A

intronic

De novo

-

Yuen2017 G

ATXN1

1-0972-003

chr6:
16376317-16376318

AC

A

intronic

De novo

-

Yuen2017 G

ATXN1

AU4186302

chr6:
16682401-16682401

C

T

intronic

De novo

-

Yuen2017 G

ATXN1

AU026604

chr6:
16739631-16739631

G

T

intronic

De novo

-

Yuen2017 G

ATXN1

2-0304-004

chr6:
16504251-16504251

G

T

intronic

De novo

-

Yuen2017 G

ATXN1

AU4056302

chr6:
16543484-16543484

T

C

intronic

De novo

-

Yuen2017 G

ATXN1

AU2333302

chr6:
16954640-16954640

C

G

intergenic

De novo

-

Yuen2017 G

ATXN1

AU3764302

chr6:
16705373-16705374

TA

TAA

intronic

De novo

-

Yuen2017 G

ATXN1

5-0017-003

chr6:
16363008-16363008

A

G

intronic

De novo

-

Yuen2017 G

ATXN1

A26

chr6:
16704523-16704523

C

T

intronic

De novo

-

Wu2018 G

ATXN1

1-0651-003

chr6:
16312015-16312015

G

A

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
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