Variant Results

or

or

Results for "ATXN10"

Variant Events: 26

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

ATXN10

2-1362-003

chr22:
46284243-46284243

C

G

intergenic

De novo

-

-

Yuen2017 G

ATXN10

REACH000293

chr22:
46238948-46238948

A

G

exonic

De novo

nonsynonymous SNV

NM_001167621
NM_013236

c.A1123G
c.A1315G

p.M375V
p.M439V

16.96

-

Trost2022 G
Zhou2022 GE

ATXN10

AU4060306

chr22:
46289170-46289170

C

T

intergenic

De novo

-

-

Yuen2017 G

ATXN10

2-1168-003

chr22:
46100098-46100098

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ATXN10

AU024104

chr22:
46257282-46257282

G

A

intergenic

De novo

-

-

Yuen2017 G

ATXN10

1-0244-003

chr22:
46242711-46242711

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ATXN10

4-0049-003

chr22:
46090807-46090812

CAAGAC

TGAAAT

intronic

De novo

-

-

Trost2022 G

ATXN10

MSSNG00424-003

chr22:
46090477-46090477

C

A

intronic

De novo

-

-

Trost2022 G

ATXN10

7-0059-003

chr22:
46083342-46083343

AA

TT

intronic

De novo

-

-

Trost2022 G

ATXN10

3-0204-000

chr22:
46080812-46080812

T

A

intronic

De novo

-

-

Trost2022 G

ATXN10

1-0075-003

chr22:
46196440-46196440

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATXN10

1-0649-003

chr22:
46207039-46207039

A

C

intronic

De novo

-

-

Trost2022 G

ATXN10

2-1153-003

chr22:
46112581-46112581

A

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ATXN10

2-1823-004

chr22:
46186653-46186653

C

T

intronic

De novo

-

-

Trost2022 G

ATXN10

REACH000631

chr22:
46165552-46165552

T

A

intronic

De novo

-

-

Trost2022 G

ATXN10

1-0469-005

chr22:
46200011-46200011

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATXN10

D4S2Z-01

chr22:
46147793-46147793

A

G

intronic

De novo

-

-

Trost2022 G

ATXN10

4-0046-004

chr22:
46146363-46146363

G

T

intronic

De novo

-

-

Trost2022 G

ATXN10

7-0254-003

chr22:
46222650-46222650

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATXN10

3-0515-001

chr22:
46135926-46135926

T

C

intronic

De novo

-

-

Trost2022 G

ATXN10

SJD_3.3

chr22:
46112459-46112459

A

C

intronic

De novo

-

-

Trost2022 G

ATXN10

AU054103

chr22:
46103590-46103590

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATXN10

1-0372-003

chr22:
46315057-46315057

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ATXN10

AU3787302

chr22:
46069609-46069609

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATXN10

1-0564-003

chr22:
46148126-46148126

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATXN10

AU021204

chr22:
46229824-46229824

T

C

intronic

De novo

-

-

Trost2022 G
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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