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Results for "PAN3"

Variant Events: 15

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
PAN3     74-0352chr13:
28816616-28816616
AGintronicDe novo--Michaelson2012 G
PAN3     1-0330-004chr13:
28768836-28768836
ACintronicDe novo--Yuen2017 G
PAN3     1-0683-004chr13:
28719430-28719430
ATintronicDe novo--Yuen2017 G
PAN3     AU4149301chr13:
28789150-28789150
TGintronicDe novo--Yuen2017 G
PAN3     1-0454-003chr13:
28756909-28756909
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PAN3     13393.p1chr13:
28764225-28764225
CTintronicDe novo--Turner2016 G
PAN3     AU2109301chr13:
28863200-28863200
TCintronicDe novo--Yuen2017 G
PAN3     1-0898-003chr13:
28714707-28714707
CTintronicDe novo--Yuen2017 G
PAN3     2-1174-005Bchr13:
28728951-28728951
TTTCintronicDe novo--Yuen2017 G
PAN3     1-0141-003chr13:
28851728-28851728
AGintronicDe novo--Yuen2017 G
PAN3     2-0043-003chr13:
28868920-28868920
TCUTR3De novo--Yuen2016 G
PAN3     2-1196-003chr13:
28770685-28770685
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PAN3     2-0063-003chr13:
28840691-28840692
GTGintronicDe novo--Yuen2017 G
PAN3     2-0244-004chr13:
28728951-28728951
TTCintronicDe novo--Yuen2017 G
PAN3     1-0375-003chr13:
28732237-28732237
GAintronicDe novo--Yuen2016 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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