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Results for "TRERF1"

Variant Events: 20

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
TRERF1     12568.p1chr6:
42506623-42506623
TAintergenicDe novo--Turner2016 G
TRERF1     1-0485-003chr6:
42260480-42260480
CTintronicDe novo--Yuen2017 G
TRERF1     AU017703chr6:
42212327-42212327
GCintronicDe novo--Yuen2017 G
TRERF1     A15chr6:
42347816-42347816
GAintronicDe novo--Wu2018 G
TRERF1     AU079104chr6:
42500287-42500287
AGintergenicDe novo--Yuen2017 G
TRERF1     SP0003070chr6:
42227401-42227401
GAexonicDe novostopgainNM_001297573
NM_033502
c.C2005T
c.C1945T
p.Q669X
p.Q649X
46.0-Feliciano2019 E
TRERF1     1-0300-004chr6:
42510113-42510113
ACintergenicDe novo--Yuen2017 G
TRERF1     2-1567-003chr6:
42225015-42225015
GAintronicDe novo--Yuen2017 G
TRERF1     2-1506-003chr6:
42373136-42373136
TCintronicDe novo--Yuen2017 G
TRERF1     1-0531-003chr6:
42470321-42470321
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
TRERF1     2-1129-003chr6:
42262506-42262506
GAintronicDe novo--Yuen2017 G
TRERF1     7-0140-003chr6:
42204312-42204312
CGintronicDe novo--Yuen2017 G
TRERF1     AU4176302chr6:
42479137-42479137
CTintergenicDe novo--Yuen2017 G
TRERF1     2-1720-003chr6:
42243276-42243276
GCintronicDe novo--Yuen2017 G
TRERF1     1-0403-003chr6:
42334141-42334141
GAintronicDe novo--Yuen2017 G
TRERF1     2-1178-003chr6:
42344637-42344639
CTTCintronicDe novo--Yuen2016 G
Yuen2017 G
TRERF1     2-1421-003chr6:
42273553-42273553
TCintronicDe novo--Yuen2016 G
Yuen2017 G
TRERF1     12793.p1chr6:
42453689-42453689
GAintergenicDe novo--Turner2016 G
TRERF1     7-0255-003chr6:
42232521-42232521
TGexonicDe novononsynonymous SNVNM_001297573
NM_033502
c.A1556C
c.A1556C
p.K519T
p.K519T
24.6-Yuen2017 G
TRERF1     AU3984301chr6:
42259129-42259129
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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