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Results for "DENND4A"

Variant Events: 11

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
DENND4A     12492.p1chr15:
65989656-65989656
TCexonicDe novononsynonymous SNVNM_005848
NM_001144823
c.A2767G
c.A2896G
p.T923A
p.T966A
7.021-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
DENND4A     200675519@1082034141chr15:
66048521-66048521
AGexonicDe novononsynonymous SNVNM_001144823
NM_005848
c.T268C
c.T268C
p.C90R
p.C90R
21.8-Satterstrom2020 E
DENND4A     Chen2017:70chr15:
66048521-66048521
AGexonicDe novononsynonymous SNVNM_001144823
NM_005848
c.T268C
c.T268C
p.C90R
p.C90R
21.8-Chen2017 E
DENND4A     7-0058-003chr15:
65962216-65962216
GCexonicDe novononsynonymous SNVNM_005848
NM_001144823
c.C4556G
c.C4685G
p.S1519C
p.S1562C
14.27-Yuen2017 G
DENND4A     13649.p1chr15:
65953737-65953737
CTUTR3De novo--Turner2016 G
DENND4A     AU4306302chr15:
65989295-65989295
TCintronicDe novo--Yuen2017 G
DENND4A     1-0763-004chr15:
66103850-66103850
AGintergenicDe novo--Yuen2017 G
DENND4A     12228.p1chr15:
65993482-65993482
GAexonicDe novononsynonymous SNVNM_001144823
NM_005848
c.C2608T
c.C2608T
p.L870F
p.L870F
19.928.519E-5Ji2016 E
DENND4A     AU3807302chr15:
66096872-66096872
CTintergenicDe novo--Yuen2017 G
DENND4A     1-0751-003chr15:
66118777-66118777
GAintergenicDe novo--Yuen2017 G
DENND4A     14606.p1chr15:
65983633-65983633
AGexonicDe novononsynonymous SNVNM_005848
NM_001144823
c.T3167C
c.T3296C
p.I1056T
p.I1099T
11.49-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Source Variant Information

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Paper alias:

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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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