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Results for "DENND5A"

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
DENND5A     AU2793301chr11:
9162542-9162542
GAintronicDe novo--Yuen2017 G
DENND5A     iHART3044chr11:
9171645-9171647
TGATexonicPaternalframeshift deletionNM_001243254
NM_015213
c.2716_2717del
c.2716_2717del
p.S906fs
p.S906fs
--Ruzzo2019 G
DENND5A     1-0358-003chr11:
9256670-9256678
AATTCCATTAintronicDe novo--Yuen2017 G
DENND5A     1-0531-003chr11:
9174597-9174597
TGintronicDe novo--Yuen2016 G
Yuen2017 G
DENND5A     5-0025-004chr11:
9240354-9240354
AGintronicDe novo--Yuen2017 G
DENND5A     1-0835-003chr11:
9189816-9189816
GAintronicDe novo--Yuen2017 G
DENND5A     20-0909490-21chr11:
9168526-9168527
GTGintronicDe novo--Satterstrom2020 E
DENND5A     09C95788chr11:
9163520-9163520
CTsplicing;exonicDe novononsynonymous SNVNM_015213c.G3647Ap.G1216D17.37-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
DENND5A     AU036Achr11:
9172264-9172264
TCexonicDe novononsynonymous SNVNM_001243254
NM_015213
c.A2569G
c.A2569G
p.M857V
p.M857V
16.06-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DENND5A     2-1485-004chr11:
9247028-9247028
GTintronicDe novo--Yuen2017 G
DENND5A     1-0323-003chr11:
9219890-9219890
AAGTintronicDe novo--Yuen2017 G
DENND5A     2-0022-005chr11:
9270371-9270371
TCintronicDe novo--Yuen2017 G
DENND5A     2-1369-003chr11:
9258639-9258639
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DENND5A     1-0300-003chr11:
9233923-9233923
ACintronicDe novo--Yuen2017 G
DENND5A     2-0319-004chr11:
9295087-9295087
AGintergenicDe novo--Yuen2017 G
DENND5A     5-0026-003chr11:
9257385-9257387
CTGCintronicDe 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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