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Results for "TECPR2"

Variant Events: 14

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
TECPR2     AU4089301chr14:
102961565-102961565
AGintronicDe novo--Yuen2017 G
TECPR2     AU3702306chr14:
102831091-102831091
CTintronicDe novo--Yuen2017 G
TECPR2     1-0296-004chr14:
102879023-102879023
TCintronicDe novo--Yuen2017 G
TECPR2     2-0081-003chr14:
102967509-102967509
CTUTR3De novo--Yuen2017 G
TECPR2     iHART1145chr14:
102898366-102898367
CTCexonicPaternalframeshift deletionNM_001172631
NM_014844
c.1319delT
c.1319delT
p.L440fs
p.L440fs
-7.174E-5Ruzzo2019 G
TECPR2     1-0508-003chr14:
102875312-102875312
GAintronicDe novo--Yuen2017 G
TECPR2     74-0265chr14:
102913784-102913784
CGintronicDe novo--Michaelson2012 G
TECPR2     AU3849302chr14:
102957542-102957542
TCintronicDe novo--Yuen2017 G
TECPR2     5-0042-003chr14:
102953184-102953184
GAintronicDe novo--Yuen2017 G
TECPR2     1-0357-003chr14:
102943655-102943655
CTintronicDe novo--Yuen2017 G
TECPR2     1-0336-003chr14:
102871396-102871396
AGintronicDe novo--Yuen2017 G
TECPR2     2-1244-003chr14:
102888192-102888192
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TECPR2     1-0381-003chr14:
102877383-102877383
ACintronicDe novo--Yuen2017 G
TECPR2     2-1425-004chr14:
102939708-102939708
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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