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Results for "ATXN1"

Variant Events: 63

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     AU2303301chr6:
16755341-16755341
AGintronicDe novo--Trost2022 G
ATXN1     2-1743-004Achr6:
16761494-16761494
AGintronicDe novo--Trost2022 G
ATXN1     MSSNG00355-003chr6:
16701604-16701604
CTintronicDe novo--Trost2022 G
ATXN1     3-0161-000chr6:
16712584-16712584
CTintronicDe novo--Trost2022 G
ATXN1     2-1359-003chr6:
16656333-16656334
ACAintronicDe novo--Yuen2017 G
ATXN1     1-0377-003chr6:
16523196-16523196
TCintronicDe novo--Yuen2017 G
ATXN1     2-1591-003chr6:
17046431-17046431
GAintergenicDe novo--Yuen2017 G
ATXN1     2-1626-003chr6:
17038267-17038267
TGintergenicDe novo--Yuen2017 G
ATXN1     AU1933301chr6:
16942570-16942570
TCintergenicDe novo--Yuen2017 G
ATXN1     5-0133-003chr6:
16766678-16766678
GCintergenicDe novo--Yuen2017 G
ATXN1     AU4054302chr6:
16461515-16461515
CTintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     AU4129303chr6:
17092259-17092259
CTintergenicDe novo--Yuen2017 G
ATXN1     AU3918302chr6:
16370206-16370206
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     AU4069301chr6:
16497779-16497779
GCintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     5-0030-003chr6:
16663860-16663860
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     AU4186302chr6:
16682401-16682401
CTintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     AU026604chr6:
16739631-16739631
GTintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     2-0304-004chr6:
16504251-16504251
GTintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     5-0017-003chr6:
16363008-16363008
AGintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     A26chr6:
16704523-16704523
CTintronicDe novo--Wu2018 G
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--Trost2022 G
Yuen2017 G
ATXN1     3165_17auchr6:
16306707-16306707
CTexonicDe novosynonymous SNVNM_001128164
NM_000332
c.G2301A
c.G2301A
p.A767A
p.A767A
--Fu2022 E
ATXN1     1-0534-004chr6:
17070742-17070744
CCTCintergenicDe novo--Yuen2017 G
ATXN1     SP0013161chr6:
16328492-16328492
CTexonicDe novononsynonymous SNVNM_001128164
NM_000332
c.G50A
c.G50A
p.R17H
p.R17H
33.0-Fu2022 E
Trost2022 G
Zhou2022 GE
ATXN1     AU4463303chr6:
17026207-17026207
ATintergenicDe novo--Yuen2017 G
ATXN1     AU4463303chr6:
17032047-17032047
GCintergenicDe novo--Yuen2017 G
ATXN1     SP0028946chr6:
16327214-16327214
GAexonicDe novononsynonymous SNVNM_001128164
NM_000332
c.C1328T
c.C1328T
p.P443L
p.P443L
15.368.243E-6Fu2022 E
Trost2022 G
Zhou2022 GE
ATXN1     1-0253-005chr6:
16384412-16384412
TCintronicDe novo--Yuen2017 G
ATXN1     AU3900302chr6:
16748161-16748161
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     5-0041-003chr6:
16976427-16976427
TGintergenicDe novo--Yuen2017 G
ATXN1     1-0455-003chr6:
16865806-16865806
CTintergenicDe novo--Yuen2017 G
ATXN1     2-1362-003chr6:
16388695-16388695
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     1-0054-003chr6:
16453147-16453147
TCintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     1-0534-003chr6:
17070742-17070744
CCTCintergenicDe novo--Yuen2017 G
ATXN1     1-0972-003chr6:
16376317-16376318
ACAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     5-5127-003chr6:
16358877-16358877
GCintronicDe novo--Trost2022 G
ATXN1     MSSNG00421-005chr6:
16425795-16425795
GAintronicDe novo--Trost2022 G
ATXN1     AU2283301chr6:
16327567-16327567
GAexonicDe novosynonymous SNVNM_001128164
NM_000332
c.C975T
c.C975T
p.N325N
p.N325N
-4.97E-5Trost2022 G
ATXN1     MSSNG00439-004chr6:
16329091-16329091
GAintronicDe novo--Trost2022 G
ATXN1     MSSNG00027-003chr6:
16319528-16319528
AGintronicDe novo--Trost2022 G
ATXN1     3-0460-000chr6:
16323261-16323261
GAintronicDe novo--Trost2022 G
ATXN1     AU4056302chr6:
16543484-16543484
TCintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     3-0058-000chr6:
16298516-16298517
CACdownstreamDe novo--Trost2022 G
ATXN1     B5X9C-01chr6:
16554821-16554821
TGintronicDe novo--Trost2022 G
ATXN1     MSSNG00257-003chr6:
16555431-16555431
CAintronicDe novo--Trost2022 G
ATXN1     MSSNG00024-004chr6:
16523178-16523178
TCintronicDe novo--Trost2022 G
ATXN1     1-1174-003chr6:
16524343-16524343
GAintronicDe novo--Trost2022 G
ATXN1     3-0143-001chr6:
16491753-16491753
CTintronicDe novo--Trost2022 G
ATXN1     MT_54.3chr6:
16499618-16499618
GCintronicDe novo--Trost2022 G
ATXN1     AU2697301chr6:
16452782-16452782
TCintronicDe novo--Trost2022 G
ATXN1     REACH000559chr6:
16458788-16458788
TCintronicDe novo--Trost2022 G
ATXN1     AU2333302chr6:
16954640-16954640
CGintergenicDe novo--Yuen2017 G
ATXN1     7-0342-003chr6:
16679358-16679362
AATAGAintronicDe novo--Trost2022 G
ATXN1     10-1104-004chr6:
16692876-16692876
GAintronicDe novo--Trost2022 G
ATXN1     1-1174-003chr6:
16615112-16615112
TCintronicDe novo--Trost2022 G
ATXN1     3-0405-000chr6:
16624427-16624427
CTintronicDe novo--Trost2022 G
ATXN1     AU3764302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
ATXN1     5-5129-003chr6:
16593669-16593669
CGintronicDe novo--Trost2022 G
ATXN1     MSSNG00053-003chr6:
16602399-16602399
GTintronicDe novo--Trost2022 G
ATXN1     1-0651-003chr6:
16312015-16312015
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN1     3-0873-000chr6:
16569368-16569368
AGintronicDe novo--Trost2022 G
ATXN1     7-0227-003chr6:
16585964-16585964
CAintronicDe novo--Trost2022 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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