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Results for "JAZF1"

Variant Events: 17

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
JAZF1     1-0683-003chr7:
27869976-27869988
ATTTTAAAATAGTAdownstreamDe novo--Yuen2017 G
JAZF1     AU0146301chr7:
28013218-28013218
GCintronicDe novo--Yuen2017 G
JAZF1     AU2100302chr7:
28189289-28189289
TAintronicDe novo--Yuen2017 G
JAZF1     13515.p1chr7:
27961853-27961853
GAintronicDe novo--Turner2016 G
JAZF1     3-0432-000chr7:
28170629-28170629
GCintronicDe novo--Yuen2016 G
Yuen2017 G
JAZF1     2-1702-003chr7:
27914707-27914707
TCintronicDe novo--Yuen2017 G
JAZF1     5-0014-003chr7:
27887946-27887951
CTTGATCintronicDe novo--Yuen2017 G
JAZF1     5-0103-003chr7:
28085383-28085383
CTintronicDe novo--Yuen2017 G
JAZF1     2-1398-004chr7:
28140334-28140334
AGintronicDe novo--Yuen2017 G
JAZF1     1-0051-005chr7:
28100031-28100031
AGintronicDe novo--Yuen2017 G
JAZF1     1-0346-004chr7:
28116199-28116199
AGintronicDe novo--Yuen2017 G
JAZF1     7-0168-003chr7:
28213225-28213225
GAintronicDe novo--Yuen2017 G
JAZF1     7-0191-003chr7:
28200953-28200953
AGintronicDe novo--Yuen2017 G
JAZF1     1-0099-003chr7:
28154873-28154873
GCintronicDe novo--Yuen2017 G
JAZF1     AU3371305chr7:
28071918-28071918
GAintronicDe novo--Yuen2017 G
JAZF1     1-0336-004chr7:
27872111-27872111
TGUTR3De novo--Yuen2017 G
JAZF1     AU047704chr7:
28057484-28057484
CTintronicDe 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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