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Results for "REV3L"

Variant Events: 22

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
REV3L     2-1437-004chr6:
111621851-111621851
ATintronicDe novo--Trost2022 G
Yuen2017 G
REV3L     1511_17auchr6:
111670458-111670458
CTexonicDe novononsynonymous SNVNM_002912
NM_001286432
NM_001286431
c.G7382A
c.G7148A
c.G7148A
p.R2461Q
p.R2383Q
p.R2383Q
36.0-Fu2022 E
REV3L     AU3913301chr6:
111737229-111737229
AGintronicDe novo--Yuen2017 G
REV3L     287-06-106413chr6:
111685185-111685185
TTAAintronicDe novo--Fu2022 E
REV3L     SP0127162chr6:
111689061-111689061
TGexonicnonsynonymous SNVNM_002912
NM_001286432
NM_001286431
c.A5930C
c.A5696C
c.A5696C
p.N1977T
p.N1899T
p.N1899T
10.27-Zhou2022 GE
REV3L     A7chr6:
111700051-111700051
AGintronicDe novo--Wu2018 G
REV3L     1-0037-004chr6:
111647097-111647097
TGintronicDe novo--Trost2022 G
REV3L     SP0344870chr6:
111628643-111628643
CTexonicnonsynonymous SNVNM_002912
NM_001286432
NM_001286431
c.G9173A
c.G8939A
c.G8939A
p.R3058Q
p.R2980Q
p.R2980Q
29.52.471E-5Zhou2022 GE
REV3L     AU4186302chr6:
111653198-111653198
CTintronicDe novo--Trost2022 G
Yuen2017 G
REV3L     AU2029301chr6:
111789047-111789047
GCintronicDe novo--Trost2022 G
Yuen2017 G
REV3L     SP0184089chr6:
111631067-111631070
CATGCexonicDe novononframeshift deletionNM_002912
NM_001286432
NM_001286431
c.9028_9030del
c.8794_8796del
c.8794_8796del
p.3010_3010del
p.2932_2932del
p.2932_2932del
--Trost2022 G
Zhou2022 GE
REV3L     MSSNG00360-004chr6:
111782243-111782243
GCintronicDe novo--Trost2022 G
REV3L     GAU0034Cchr6:
111689217-111689217
CTexonicDe novononsynonymous SNVNM_002912
NM_001286432
NM_001286431
c.G5774A
c.G5540A
c.G5540A
p.R1925Q
p.R1847Q
p.R1847Q
16.649.178E-6Lim2017 E
REV3L     AU2303301chr6:
111728915-111728915
ACintronicDe novo--Trost2022 G
REV3L     MT_15.3chr6:
111755433-111755433
TCintronicDe novo--Trost2022 G
REV3L     DEASD_0075_001chr6:
111714164-111714164
GAexonicDe novononsynonymous SNVNM_002912
NM_001286432
NM_001286431
c.C577T
c.C343T
c.C343T
p.H193Y
p.H115Y
p.H115Y
7.849-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
REV3L     14642.p1chr6:
111623351-111623351
AGintronicDe novo--Turner2016 G
REV3L     7-0094-004chr6:
111712219-111712219
ATintronicDe novo--Trost2022 G
REV3L     1-1167-003chr6:
111720938-111720938
ATintronicDe novo--Trost2022 G
REV3L     7-0390-003chr6:
111679074-111679074
GCintronicDe novo--Trost2022 G
REV3L     2-0012-004chr6:
111705264-111705265
GAGintronicDe novo--Trost2022 G
REV3L     SMHC01708s000chr6:
111628749-111628749
GAexonicDe novostopgainNM_002912
NM_001286432
NM_001286431
c.C9067T
c.C8833T
c.C8833T
p.R3023X
p.R2945X
p.R2945X
54.0-Yuan2023 E
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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