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Results for "BACH2"

Variant Events: 16

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
BACH2     1-0632-003chr6:
90847416-90847416
CTintronicDe novo--Yuen2017 G
BACH2     AU3951302chr6:
90811758-90811758
GAintronicDe novo--Yuen2017 G
BACH2     AU4336301chr6:
90687986-90687986
TCintronicDe novo--Yuen2017 G
BACH2     AU3716301chr6:
90993340-90993340
CTintronicDe novo--Yuen2017 G
BACH2     AU062204chr6:
90779809-90779809
CTintronicDe novo--Yuen2017 G
BACH2     1-0215-006chr6:
90958394-90958394
CGintronicDe novo--Yuen2017 G
BACH2     1-0563-003chr6:
90969958-90969958
TGintronicDe novo--Yuen2017 G
BACH2     1-0395-004chr6:
90754256-90754256
CTintronicDe novo--Yuen2017 G
BACH2     2-0013-003chr6:
90948219-90948228
TACAAAGAAATintronicDe novo--Yuen2017 G
BACH2     AU3907302chr6:
90951779-90951779
TCintronicDe novo--Yuen2017 G
BACH2     A16chr6:
90803423-90803423
TCintronicDe novo--Wu2018 G
BACH2     AU3782303chr6:
90840463-90840463
GAintronicDe novo--Yuen2017 G
BACH2     1-0395-003chr6:
90754256-90754256
CTintronicDe novo--Yuen2017 G
BACH2     11572.p1chr6:
90903588-90903588
TCintronicDe novo--Turner2016 G
BACH2     2-0309-005chr6:
90764472-90764472
CTintronicDe novo--Yuen2017 G
BACH2     AU074403chr6:
91019442-91019442
AGintergenicDe 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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