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Results for "TNPO3"

Variant Events: 10

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
TNPO3     11169.p1chr7:
128622321-128622321
GAexonicDe novononsynonymous SNVNM_001191028
NM_012470
c.C1648T
c.C1840T
p.R550C
p.R614C
20.38.248E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
TNPO3     2-0142-004chr7:
128631455-128631455
CTintronicDe novo--Yuen2017 G
TNPO3     AU3918301chr7:
128633206-128633206
GAintronicDe novo--Yuen2017 G
TNPO3     5-0064-003chr7:
128668635-128668635
GAintronicDe novo--Yuen2017 G
TNPO3     AU4033305chr7:
128637617-128637617
TCintronicDe novo--Yuen2017 G
TNPO3     1-0382-003chr7:
128660889-128660889
ATintronicDe novo--Yuen2017 G
TNPO3     1-0052-003chr7:
128651436-128651436
CTintronicDe novo--Yuen2017 G
TNPO3     NDAR_INVHB056KJT_wes1chr7:
128610260-128610260
GCexonicDe novononsynonymous SNVNM_001191028
NM_012470
c.C2348G
c.C2540G
p.P783R
p.P847R
19.23-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
TNPO3     Lim2017:68527chr7:
128622321-128622321
GAexonicDe novononsynonymous SNVNM_001191028
NM_012470
c.C1648T
c.C1840T
p.R550C
p.R614C
20.38.248E-6Lim2017 E
TNPO3     AU3302302chr7:
128615664-128615664
AGintronicDe 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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