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Results for "NEDD4L"

Variant Events: 53

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
NEDD4L     1-0841-003chr18:
56103895-56103895
GAintergenicDe novo--Yuen2017 G
NEDD4L     7-0097-003chr18:
55824082-55824082
GAintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     AU012803chr18:
55873363-55873363
GAintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     1-0161-004chr18:
56042555-56042559
CCCTGCintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     ASC_CA_200_Achr18:
55990492-55990492
CAexonicDe novosynonymous SNVNM_001144966
NM_001144970
NM_001144964
NM_001144965
NM_001144967
NM_001144968
NM_001144969
NM_001243960
NM_015277
NM_001144971
c.C76A
c.C76A
c.C76A
c.C76A
c.C439A
c.C415A
c.C415A
c.C439A
c.C439A
c.C76A
p.R26R
p.R26R
p.R26R
p.R26R
p.R147R
p.R139R
p.R139R
p.R147R
p.R147R
p.R26R
-1.602E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NEDD4L     SP0071266chr18:
56008864-56008864
CTintronicDe novo-2.836E-5Fu2022 E
Trost2022 G
NEDD4L     2-1261-003chr18:
55851212-55851212
TCintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     13543.p1chr18:
55812875-55812875
CTintronicDe novo--Turner2016 G
NEDD4L     11456.p1chr18:
56067494-56067494
GCUTR3De novo--Turner2016 G
NEDD4L     1-0715-003chr18:
56107280-56107280
GAintergenicDe novo--Yuen2017 G
NEDD4L     AU2109301chr18:
56087429-56087429
TCintergenicDe novo--Yuen2017 G
NEDD4L     AU055004chr18:
55806874-55806874
GAintronicDe novo--Yuen2017 G
NEDD4L     1-0806-003chr18:
55788310-55788310
GAintronicDe novo--Yuen2017 G
NEDD4L     AU3175303chr18:
56101901-56101903
TCCTCintergenicDe novo--Yuen2017 G
NEDD4L     SMHC01890s000chr18:
55912695-55912695
TGexonicDe novononsynonymous SNVNM_001144967
NM_001144968
NM_001144969
NM_001243960
NM_015277
c.T159G
c.T135G
c.T135G
c.T159G
c.T159G
p.D53E
p.D45E
p.D45E
p.D53E
p.D53E
11.5-Yuan2023 E
NEDD4L     AU021204chr18:
56030767-56030767
AGintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     2-1160-003chr18:
56110514-56110520
ATTTTTTATTTTintergenicDe novo--Yuen2017 G
NEDD4L     11717.p1chr18:
55983187-55983187
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
NEDD4L     AU4079301chr18:
55797346-55797352
TTGACTGTTGintronicDe novo--Yuen2017 G
NEDD4L     AU072004chr18:
55956046-55956046
AGintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     AU4465303chr18:
55931997-55931997
CGintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     AU050604chr18:
55986253-55986253
TCintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     1-0010-005chr18:
55949400-55949400
CTintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     2-1417-003chr18:
56067244-56067244
AGUTR3De novo--Trost2022 G
Yuen2017 G
NEDD4L     AU1355301chr18:
56020258-56020258
TGintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     AU4359301chr18:
55797346-55797352
TTGACTGTTGintronicDe novo--Yuen2017 G
NEDD4L     1-0160-004chr18:
55805138-55805138
CAintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     AU3907301chr18:
55827159-55827160
CTCintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     2-1736-003chr18:
55897930-55897930
AGintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     AU2448301chr18:
55787741-55787741
GAintronicDe novo--Trost2022 G
NEDD4L     AU2504301chr18:
55804620-55804633
GAGGGCAGTGGAGAGintronicDe novo--Trost2022 G
NEDD4L     14-547chr18:
55755352-55755352
GTintronicDe novo--Trost2022 G
NEDD4L     1-1174-003chr18:
55768194-55768194
TCintronicDe novo--Trost2022 G
NEDD4L     MT_22.3chr18:
55731551-55731551
TCintronicDe novo--Trost2022 G
NEDD4L     5-5127-003chr18:
55749337-55749337
TAintronicDe novo--Trost2022 G
NEDD4L     10-0005-003chr18:
55716217-55716217
CTintronicDe novo--Trost2022 G
NEDD4L     2-1299-003chr18:
55949368-55949368
GGCintronicDe novo--Yuen2017 G
NEDD4L     3-0294-000chr18:
55723487-55723487
CTintronicDe novo--Trost2022 G
NEDD4L     9-0027-003chr18:
55974482-55974482
GAintronicDe novo--Trost2022 G
NEDD4L     REACH000555chr18:
56010966-56010966
TCintronicDe novo--Trost2022 G
NEDD4L     1-0551-004chr18:
55949351-55949355
TTTTTAAAAAintronicDe novo--Trost2022 G
NEDD4L     1-1195-003chr18:
55972584-55972585
GCGintronicDe novo--Trost2022 G
NEDD4L     7-0371-003chr18:
55870568-55870568
TCintronicDe novo--Trost2022 G
NEDD4L     3-0752-000chr18:
55871374-55871374
CGintronicDe novo--Trost2022 G
NEDD4L     AU2787302chr18:
55793739-55793739
AGintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     1-0160-004chr18:
55811238-55811241
TGTTAATAintronicDe novo--Trost2022 G
NEDD4L     5-5046-003chr18:
55851217-55851217
TCintronicDe novo--Trost2022 G
NEDD4L     2-1269-003chr18:
55847419-55847419
CTintronicDe novo--Yuen2016 G
Yuen2017 G
NEDD4L     1-0820-003chr18:
55795591-55795591
TCintronicDe novo--Trost2022 G
Yuen2017 G
NEDD4L     1-1215-003chr18:
56033037-56033037
GTintronicDe novo--Trost2022 G
NEDD4L     AU3638302chr18:
56038759-56038759
AGintronicDe novo--Trost2022 G
NEDD4L     SJD_54.3chr18:
56015914-56015914
GAintronicDe novo--Trost2022 G
NEDD4L     MSSNG00045-005chr18:
56019857-56019857
CGintronicDe 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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