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Results for "DENND3"

Variant Events: 16

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
DENND3     12317.p1chr8:
142200355-142200355
GGGTintronicDe novo-9.0E-4Dong2014 E
Kosmicki2017 E
DENND3     1-0330-004chr8:
142172777-142172777
GAintronicDe novo--Yuen2017 G
DENND3     14344.p1chr8:
142148158-142148158
CTexonicMosaic Mat.synonymous SNVNM_014957c.C183Tp.C61C2.2610.0013Dou2017 E
DENND3     2-1421-003chr8:
142206837-142206837
CAdownstreamDe novo--Yuen2016 G
Yuen2017 G
DENND3     AU3847302chr8:
142188802-142188802
CTintronicDe novo--Yuen2017 G
DENND3     1-0483-003chr8:
142208674-142208674
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
DENND3     1-0736-003chr8:
142151150-142151150
CTintronicDe novo--Yuen2017 G
DENND3     JASD_Fam0082chr8:
142170768-142170768
GAexonicDe novononsynonymous SNVNM_014957c.G994Ap.A332T9.2958.751E-6Takata2018 E
DENND3     EGAN00001101387chr8:
142185623-142185623
GTintronicDe novo--Satterstrom2020 E
DENND3     14341.p1chr8:
142161681-142161681
ATintronicDe novo-1.0E-4Satterstrom2020 E
DENND3     7-0002-003chr8:
142176027-142176027
CGintronicDe novo--Yuen2017 G
DENND3     1-0978-003chr8:
142201054-142201054
GCintronicDe novo--Yuen2017 G
DENND3     2-1738-003chr8:
142144398-142144398
ATintronicDe novo--Yuen2017 G
DENND3     5C460chr8:
142148261-142148261
CTintronicDe novo--Satterstrom2020 E
DENND3     SP0032561chr8:
142175342-142175342
GAexonicDe novononsynonymous SNVNM_014957c.G1267Ap.D423N21.6-Feliciano2019 E
DENND3     2-1426-003chr8:
142182055-142182057
ACTAintronicDe novo--Yuen2017 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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