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Results for "TRERF1"

Variant Events: 39

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     1-0485-003chr6:
42260480-42260480
CTintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     AU017703chr6:
42212327-42212327
GCintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     SP0043012chr6:
42227149-42227149
CTexonicnonsynonymous SNVNM_001297573
NM_033502
c.G2257A
c.G2197A
p.G753S
p.G733S
19.47-Zhou2022 GE
TRERF1     AU079104chr6:
42500287-42500287
AGintergenicDe novo--Yuen2017 G
TRERF1     1-0300-004chr6:
42510113-42510113
ACintergenicDe novo--Yuen2017 G
TRERF1     2-1567-003chr6:
42225015-42225015
GAintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     SP0012465chr6:
42233452-42233452
GAintronicDe novo-5.127E-5Fu2022 E
TRERF1     1-0403-003chr6:
42334141-42334141
GAintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     12793.p1chr6:
42453689-42453689
GAintergenicDe novo--Turner2016 G
TRERF1     12568.p1chr6:
42506623-42506623
TAintergenicDe novo--Turner2016 G
TRERF1     SP0067105chr6:
42237328-42237328
TCexonicDe novononsynonymous SNVNM_001297573
NM_033502
c.A1G
c.A1G
p.M1V
p.M1V
15.96-Antaki2022 GE
Fu2022 E
Zhou2022 GE
TRERF1     A15chr6:
42347816-42347816
GAintronicDe novo--Wu2018 G
TRERF1     SP0003070chr6:
42227401-42227401
GAexonicDe novostopgainNM_001297573
NM_033502
c.C2005T
c.C1945T
p.Q669X
p.Q649X
46.0-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
TRERF1     2-1506-003chr6:
42373136-42373136
TCintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     1-0531-003chr6:
42470321-42470321
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
TRERF1     1-1230-003chr6:
42263120-42263120
AGintronicDe novo--Trost2022 G
TRERF1     2-1129-003chr6:
42262506-42262506
GAintronicDe novo--Yuen2017 G
TRERF1     7-0140-003chr6:
42204312-42204312
CGintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     MSSNG00399-003chr6:
42276156-42276156
CTintronicDe novo--Trost2022 G
TRERF1     5-5072-003chr6:
42235536-42235538
TCATintronicDe novo--Trost2022 G
TRERF1     AU4176302chr6:
42479137-42479137
CTintergenicDe novo--Yuen2017 G
TRERF1     2-1546-003chr6:
42248741-42248741
CTintronicDe novo--Trost2022 G
TRERF1     REACH000292chr6:
42206535-42206538
CGATCintronicDe novo--Trost2022 G
TRERF1     2-1720-003chr6:
42243276-42243276
GCintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     7-0416-003chr6:
42219513-42219513
CTintronicDe novo--Trost2022 G
TRERF1     2-1508-004chr6:
42197558-42197572
AGGTCTGCAAACTATAintronicDe novo--Trost2022 G
TRERF1     AU2288301chr6:
42206214-42206214
CTintronicDe novo--Trost2022 G
TRERF1     7-0292-004Achr6:
42377807-42377807
TCintronicDe novo--Trost2022 G
TRERF1     2-1178-003chr6:
42344637-42344639
CTTCintronicDe novo--Yuen2016 G
Yuen2017 G
TRERF1     1-0634-003chr6:
42413351-42413351
GAintronicDe novo--Trost2022 G
TRERF1     2-1421-003chr6:
42273553-42273553
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TRERF1     MSSNG00008-003chr6:
42302802-42302802
GAintronicDe novo--Trost2022 G
TRERF1     1-1212-003chr6:
42322654-42322654
GCintronicDe novo--Trost2022 G
TRERF1     MT_182.3chr6:
42286995-42286995
ACintronicDe novo--Trost2022 G
TRERF1     7-0255-003chr6:
42232521-42232521
TGexonicDe novononsynonymous SNVNM_001297573
NM_033502
c.A1556C
c.A1556C
p.K519T
p.K519T
24.6-Trost2022 G
Yuen2017 G
Zhou2022 GE
TRERF1     AU3984301chr6:
42259129-42259129
AGintronicDe novo--Trost2022 G
Yuen2017 G
TRERF1     7-0081-003chr6:
42296079-42296079
CAintronicDe novo--Trost2022 G
TRERF1     3-0626-000Achr6:
42281066-42281066
CTintronicDe novo--Trost2022 G
TRERF1     4-0040-004chr6:
42282669-42282669
CTintronicDe novo--Trost2022 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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