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Results for "DENND2C"

Variant Events: 8

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
DENND2C     188-03-100416chr1:
115137140-115137141
CACexonicDe novoframeshift deletionNM_198459
NM_001256404
c.2213delT
c.2384delT
p.L738fs
p.L795fs
--Satterstrom2020 E
DENND2C     2-1107-003chr1:
115209355-115209355
TCintronicDe novo--Yuen2016 G
Yuen2017 G
DENND2C     AU1223303chr1:
115156109-115156113
CATATCATintronicDe novo--Yuen2017 G
DENND2C     DEASD_1028_001chr1:
115142853-115142853
TCexonicDe novononsynonymous SNVNM_198459
NM_001256404
c.A1906G
c.A2077G
p.R636G
p.R693G
20.8-Satterstrom2020 E
DENND2C     DEASD_0336_001chr1:
115153709-115153709
CTexonicDe novononsynonymous SNVNM_198459
NM_001256404
c.G1183A
c.G1354A
p.E395K
p.E452K
21.6-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DENND2C     3-0482-000chr1:
115141541-115141541
TAintronicDe novo--Yuen2017 G
DENND2C     13649.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
DENND2C     12175.p1chr1:
115211750-115211750
ACintronicDe novo--Turner2016 G
Source Variant Information

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Source:

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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