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Results for "ABTB2"

Variant Events: 23

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
ABTB2     AU3636302chr11:
34398280-34398280
GAintergenicDe novo--Yuen2017 G
ABTB2     13143.p1chr11:
34328927-34328927
CTintronicDe novo--Wilfert2021 G
ABTB2     AU3905302chr11:
34285213-34285222
ACCAGCCCAGACCAGintronicDe novo--Yuen2017 G
ABTB2     2-0242-005chr11:
34365060-34365060
TCintronicDe novo--Yuen2017 G
ABTB2     3-0482-000chr11:
34430071-34430071
GTintergenicDe novo--Yuen2017 G
ABTB2     1-0141-003chr11:
34397397-34397397
GTintergenicDe novo--Yuen2017 G
ABTB2     2-1318-004chr11:
34365060-34365060
TCintronicDe novo--Yuen2017 G
ABTB2     5-0033-004chr11:
34197687-34197687
CTintronicDe novo--Yuen2017 G
ABTB2     AU2035301chr11:
34323457-34323459
CCACintronicDe novo--Yuen2017 G
ABTB2     AU2165301chr11:
34424257-34424257
CTintergenicDe novo--Yuen2017 G
ABTB2     1-0756-005chr11:
34313349-34313349
GAintronicDe novo--Yuen2017 G
ABTB2     AU2035302chr11:
34323457-34323459
CCACintronicDe novo--Yuen2017 G
ABTB2     2-1174-006chr11:
34247257-34247257
GAintronicDe novo--Yuen2017 G
ABTB2     AU3636301chr11:
34398280-34398280
GAintergenicDe novo--Yuen2017 G
ABTB2     13171.p1chr11:
34232653-34232653
TCintronicDe novo--Turner2016 G
ABTB2     5-0103-003chr11:
34286339-34286339
ACintronicDe novo--Yuen2017 G
ABTB2     AU1404302chr11:
34242921-34242921
GAintronicDe novo--Yuen2017 G
ABTB2     2-0063-003chr11:
34175554-34175554
CGintronicDe novo--Yuen2017 G
ABTB2     1-0382-003chr11:
34365141-34365141
TCintronicDe novo--Yuen2017 G
ABTB2     1-0497-003chr11:
34459469-34459469
TAintergenicDe novo--Yuen2017 G
ABTB2     7-0256-003chr11:
34172513-34172513
CAdownstreamDe novo--Yuen2017 G
ABTB2     1-0868-003chr11:
34444525-34444525
GTintergenicDe novo--Yuen2017 G
ABTB2     AU3905301chr11:
34449739-34449748
AACTTACTTAAACTTAintergenicDe 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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