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Results for "TPTE2"

Variant Events: 9

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
TPTE2     1-0121-003chr13:
20006755-20006759
GAAAAGAAintronicDe novo--Yuen2017 G
TPTE2     14153.p1chr13:
20138856-20138856
CTintergenicDe novo--Turner2016 G
TPTE2     2-1279-003chr13:
20089806-20089806
CTintronicDe novo--Yuen2017 G
TPTE2     AU3911301chr13:
20060333-20060333
GAintronicDe novo--Yuen2017 G
TPTE2     AU4412302chr13:
20136563-20136563
ACintergenicDe novo--Yuen2017 G
TPTE2     74-0117chr13:
20070302-20070302
GAintronicInherited--Michaelson2012 G
TPTE2     NP121chr13:
20006639-20006639
TAexonicMosaicnonsynonymous SNVNM_001271850
NM_130785
NM_001141968
NM_199254
c.A209T
c.A965T
c.A863T
c.A1196T
p.K70I
p.K322I
p.K288I
p.K399I
12.740.0011Lim2017 E
TPTE2     AU3076302chr13:
20062410-20062410
GAintronicDe novo--Yuen2017 G
TPTE2     AU011704chr13:
20070302-20070302
GAintronicDe 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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