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Results for "TDRD5"

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
TDRD5     2-1296-003chr1:
179686519-179686519
GCintergenicDe novo--Yuen2017 G
TDRD5     09C99485chr1:
179609178-179609178
GAexonicDe novosynonymous SNVNM_001199092
NM_001199085
NM_001199089
NM_001199091
NM_173533
c.G390A
c.G1725A
c.G1725A
c.G1725A
c.G1725A
p.R130R
p.R575R
p.R575R
p.R575R
p.R575R
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
TDRD5     PN400554chr1:
179561901-179561901
CTexonicUnknownnonsynonymous SNVNM_001199085
NM_001199089
NM_001199091
NM_173533
c.C151T
c.C151T
c.C151T
c.C151T
p.R51W
p.R51W
p.R51W
p.R51W
18.187.413E-5Leblond2019 E
TDRD5     AU005213chr1:
179578810-179578810
CGintronicDe novo--Yuen2017 G
TDRD5     AU0146301chr1:
179620461-179620461
CTintronicDe novo--Yuen2017 G
TDRD5     1-0835-003chr1:
179594938-179594943
ATACTAATAintronicDe novo--Yuen2017 G
TDRD5     1-0820-003chr1:
179633944-179633946
TAATAintronicDe novo--Yuen2017 G
TDRD5     1-0271-003chr1:
179566878-179566878
TCintronicDe novo--Yuen2017 G
TDRD5     PN400530chr1:
179561901-179561901
CTexonicUnknownnonsynonymous SNVNM_001199085
NM_001199089
NM_001199091
NM_173533
c.C151T
c.C151T
c.C151T
c.C151T
p.R51W
p.R51W
p.R51W
p.R51W
18.187.413E-5Leblond2019 E
TDRD5     1-0139-005chr1:
179644416-179644416
TTAintronicDe novo--Yuen2017 G
TDRD5     1-0261-004chr1:
179618550-179618550
GAintronicDe novo--Yuen2017 G
TDRD5     1-0289-004chr1:
179612730-179612730
AGintronicDe novo--Yuen2017 G
TDRD5     2-0309-005chr1:
179698131-179698132
TATintergenicDe novo--Yuen2017 G
TDRD5     2-1505-003chr1:
179685680-179685680
TTTTTTTAintergenicDe 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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