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Results for "ATXN1"

Variant Events: 33

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:B26chr6:
16306868-16306868
CTexonicDe novononsynonymous SNVNM_001128164
NM_000332
c.G2140A
c.G2140A
p.D714N
p.D714N
19.29-Kim2020 E
ATXN1     AU3912303chr6:
16567975-16567975
GAintronicDe novo--Yuen2017 G
ATXN1     1-0534-004chr6:
17070742-17070744
CCTCintergenicDe novo--Yuen2017 G
ATXN1     AU4463303chr6:
17026207-17026207
ATintergenicDe novo--Yuen2017 G
ATXN1     AU4463303chr6:
17032047-17032047
GCintergenicDe novo--Yuen2017 G
ATXN1     2-1359-003chr6:
16656333-16656334
ACAintronicDe novo--Yuen2017 G
ATXN1     1-0377-003chr6:
16523196-16523196
TCintronicDe novo--Yuen2017 G
ATXN1     1-0253-005chr6:
16384412-16384412
TCintronicDe novo--Yuen2017 G
ATXN1     AU3900302chr6:
16748161-16748161
GAintronicDe novo--Yuen2017 G
ATXN1     2-1591-003chr6:
17046431-17046431
GAintergenicDe novo--Yuen2017 G
ATXN1     2-1626-003chr6:
17038267-17038267
TGintergenicDe novo--Yuen2017 G
ATXN1     5-0041-003chr6:
16976427-16976427
TGintergenicDe novo--Yuen2017 G
ATXN1     AU1933301chr6:
16942570-16942570
TCintergenicDe novo--Yuen2017 G
ATXN1     1-0455-003chr6:
16865806-16865806
CTintergenicDe novo--Yuen2017 G
ATXN1     5-0133-003chr6:
16766678-16766678
GCintergenicDe novo--Yuen2017 G
ATXN1     2-1362-003chr6:
16388695-16388695
GAintronicDe novo--Yuen2017 G
ATXN1     AU4054302chr6:
16461515-16461515
CTintronicDe novo--Yuen2017 G
ATXN1     AU4129303chr6:
17092259-17092259
CTintergenicDe novo--Yuen2017 G
ATXN1     1-0054-003chr6:
16453147-16453147
TCintronicDe novo--Yuen2017 G
ATXN1     AU3918302chr6:
16370206-16370206
GAintronicDe novo--Yuen2017 G
ATXN1     AU4069301chr6:
16497779-16497779
GCintronicDe novo--Yuen2017 G
ATXN1     1-0534-003chr6:
17070742-17070744
CCTCintergenicDe novo--Yuen2017 G
ATXN1     5-0030-003chr6:
16663860-16663860
GAintronicDe novo--Yuen2017 G
ATXN1     1-0972-003chr6:
16376317-16376318
ACAintronicDe novo--Yuen2017 G
ATXN1     AU4186302chr6:
16682401-16682401
CTintronicDe novo--Yuen2017 G
ATXN1     AU026604chr6:
16739631-16739631
GTintronicDe novo--Yuen2017 G
ATXN1     2-0304-004chr6:
16504251-16504251
GTintronicDe novo--Yuen2017 G
ATXN1     AU4056302chr6:
16543484-16543484
TCintronicDe novo--Yuen2017 G
ATXN1     AU2333302chr6:
16954640-16954640
CGintergenicDe novo--Yuen2017 G
ATXN1     AU3764302chr6:
16705373-16705374
TATAAintronicDe novo--Yuen2017 G
ATXN1     5-0017-003chr6:
16363008-16363008
AGintronicDe novo--Yuen2017 G
ATXN1     A26chr6:
16704523-16704523
CTintronicDe novo--Wu2018 G
ATXN1     1-0651-003chr6:
16312015-16312015
GAintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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