or
or
Exact

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     2-1362-003chr22:
46284243-46284243
CGintergenicDe novo--Yuen2017 G
ATXN10     REACH000293chr22:
46238948-46238948
AGexonicDe novononsynonymous SNVNM_001167621
NM_013236
c.A1123G
c.A1315G
p.M375V
p.M439V
16.96-Trost2022 G
Zhou2022 GE
ATXN10     AU4060306chr22:
46289170-46289170
CTintergenicDe novo--Yuen2017 G
ATXN10     2-1168-003chr22:
46100098-46100098
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ATXN10     AU024104chr22:
46257282-46257282
GAintergenicDe novo--Yuen2017 G
ATXN10     1-0244-003chr22:
46242711-46242711
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ATXN10     4-0049-003chr22:
46090807-46090812
CAAGACTGAAATintronicDe novo--Trost2022 G
ATXN10     MSSNG00424-003chr22:
46090477-46090477
CAintronicDe novo--Trost2022 G
ATXN10     7-0059-003chr22:
46083342-46083343
AATTintronicDe novo--Trost2022 G
ATXN10     3-0204-000chr22:
46080812-46080812
TAintronicDe novo--Trost2022 G
ATXN10     1-0075-003chr22:
46196440-46196440
TCintronicDe novo--Trost2022 G
Yuen2017 G
ATXN10     1-0649-003chr22:
46207039-46207039
ACintronicDe novo--Trost2022 G
ATXN10     2-1153-003chr22:
46112581-46112581
ATintronicDe novo--Yuen2016 G
Yuen2017 G
ATXN10     2-1823-004chr22:
46186653-46186653
CTintronicDe novo--Trost2022 G
ATXN10     REACH000631chr22:
46165552-46165552
TAintronicDe novo--Trost2022 G
ATXN10     1-0469-005chr22:
46200011-46200011
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN10     D4S2Z-01chr22:
46147793-46147793
AGintronicDe novo--Trost2022 G
ATXN10     4-0046-004chr22:
46146363-46146363
GTintronicDe novo--Trost2022 G
ATXN10     7-0254-003chr22:
46222650-46222650
TAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN10     3-0515-001chr22:
46135926-46135926
TCintronicDe novo--Trost2022 G
ATXN10     SJD_3.3chr22:
46112459-46112459
ACintronicDe novo--Trost2022 G
ATXN10     AU054103chr22:
46103590-46103590
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN10     1-0372-003chr22:
46315057-46315057
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ATXN10     AU3787302chr22:
46069609-46069609
AGintronicDe novo--Trost2022 G
Yuen2017 G
ATXN10     1-0564-003chr22:
46148126-46148126
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN10     AU021204chr22:
46229824-46229824
TCintronicDe 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 notesView
More