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Results for "TDRD9"

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
TDRD9     1-0193-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
Yuen2017 G
TDRD9     1-0193-003chr14:
104457887-104457887
CTintronicDe novo--Yuen2017 G
TDRD9     2-1421-003chr14:
104507445-104507445
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TDRD9     3-0442-000chr14:
104479854-104479856
CAGCintronicDe novo--Yuen2016 G
Yuen2017 G
TDRD9     iHART2473chr14:
104431789-104431789
CAexonicPaternalstopgainNM_153046c.C540Ap.C180X17.23-Ruzzo2019 G
TDRD9     iHART2474chr14:
104431789-104431789
CAexonicPaternalstopgainNM_153046c.C540Ap.C180X17.23-Ruzzo2019 G
TDRD9     2-0171-003chr14:
104494635-104494635
CTintronicDe novo--Yuen2017 G
TDRD9     2-0171-003chr14:
104491924-104491924
GCexonicDe novononsynonymous SNVNM_153046c.G2742Cp.W914C19.32-Yuen2015 G
Yuen2017 G
TDRD9     2-0171-003chr14:
104492261-104492261
ACintronicDe novo--Yuen2017 G
TDRD9     1-0049-004chr14:
104480663-104480663
CCTGTAintronicDe novo--Yuen2017 G
TDRD9     5-0074-003chr14:
104517804-104517804
CGintronicDe novo--Yuen2017 G
TDRD9     08C75089chr14:
104436844-104436844
CGintronicDe novo--Satterstrom2020 E
TDRD9     2-0171-003chr14:
104492097-104492097
CTexonicDe novononsynonymous SNVNM_153046c.C2915Tp.S972F4.237-Yuen2015 G
Yuen2017 G
TDRD9     2-0171-003chr14:
104495506-104495506
TAintronicDe novo--Yuen2017 G
TDRD9     3-0018-000chr14:
104454587-104454587
TCintronicDe 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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