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Results for "ATXN2"

Variant Events: 22

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
ATXN2     7-0167-003chr12:
112006702-112006702
CTintronicDe novo--Trost2022 G
Yuen2017 G
ATXN2     1-0965-003chr12:
111946940-111946940
TCintronicDe novo--Trost2022 G
Yuen2017 G
ATXN2     3-0448-000 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
ATXN2     SP0100919chr12:
112036644-112036644
CTexonicsynonymous SNVNM_002973c.G675Ap.T225T--Zhou2022 GE
ATXN2     REACH000762chr12:
111991864-111991864
CTintronicDe novo--Trost2022 G
ATXN2     7-0286-004Achr12:
111993494-111993497
TACATintronicDe novo--Trost2022 G
ATXN2     2-1237-002chr12:
111978778-111978778
ACintronicDe novo--Trost2022 G
ATXN2     2-1209-003chr12:
111988274-111988274
GAintronicDe novo--Trost2022 G
ATXN2     3-0774-000Achr12:
111935322-111935322
TAintronicDe novo--Trost2022 G
ATXN2     60-4031chr12:
112036756-112036756
TGexonicInheritednonsynonymous SNVNM_002973c.A563Cp.Q188P11.510.0775Patowary2019 E
ATXN2     2-1519-006chr12:
111947948-111947948
GAintronicDe novo--Trost2022 G
ATXN2     AU3695303chr12:
112074213-112074213
GAintergenicDe novo--Yuen2017 G
ATXN2     SP0248800chr12:
111890602-111890602
CTUTR3De novo16.63-Trost2022 G
ATXN2     1-0955-003chr12:
112028113-112028116
ACCTAintronicDe novo--Trost2022 G
ATXN2     SP0037862chr12:
111890511-111890511
ATUTR3De novo--Fu2022 E
ATXN2     AU2231301chr12:
112028819-112028820
GAGintronicDe novo--Trost2022 G
ATXN2     MSSNG00362-003chr12:
112013507-112013507
TTAintronicDe novo--Trost2022 G
ATXN2     3-0261-000chr12:
112020941-112020941
TAintronicDe novo--Trost2022 G
ATXN2     MSSNG00025-003chr12:
111997605-111997605
AGintronicDe novo--Trost2022 G
ATXN2     14-591chr12:
112003261-112003266
TAAAGATintronicDe novo--Trost2022 G
ATXN2     AU027506chr12:
112016322-112016322
GAintronicDe novo--Trost2022 G
Yuen2017 G
ATXN2     72-0745chr12:
112036756-112036756
TGexonicInheritednonsynonymous SNVNM_002973c.A563Cp.Q188P11.510.0775Patowary2019 E
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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