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Results for "DGKD"

Variant Events: 15

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
DGKD     1-0389-004chr2:
234282765-234282765
CTintronicDe novo--Yuen2017 G
DGKD     1-0402-003chr2:
234370930-234370930
CTintronicDe novo--Yuen2017 G
DGKD     AU3052302chr2:
234304707-234304707
AGintronicDe novo--Yuen2017 G
DGKD     12656.p1chr2:
234343146-234343146
ACintronicDe novo-1.0E-4Satterstrom2020 E
DGKD     7-0249-004chr2:
234368330-234368330
GTintronicDe novo--Yuen2017 G
DGKD     AU075210chr2:
234306469-234306469
CTintronicDe novo--Yuen2017 G
DGKD     21758-34760chr2:
234377170-234377170
CTexonicnonsynonymous SNVNM_003648
NM_152879
c.C3394T
c.C3526T
p.L1132F
p.L1176F
28.6-Callaghan2019 G
DGKD     1-0059-003chr2:
234321495-234321495
GGTintronicDe novo--Yuen2017 G
DGKD     13637.p1chr2:
234339948-234339948
AGintronicDe novo--Wilfert2021 G
DGKD     EGAN00001101036chr2:
234355323-234355323
TCintronicDe novo--Satterstrom2020 E
DGKD     DEASD_0066_001chr2:
234350581-234350581
CCGexonicDe novoframeshift insertionNM_003648
NM_152879
c.1003dupG
c.1135dupG
p.G334fs
p.G378fs
--DeRubeis2014 E
Kosmicki2017 E
DGKD     AU071703chr2:
234365333-234365333
TGintronicDe novo--Yuen2017 G
DGKD     08C78688chr2:
234356988-234356988
GAexonicDe novosynonymous SNVNM_003648
NM_152879
c.G1449A
c.G1581A
p.E483E
p.E527E
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DGKD     AU071703chr2:
234365344-234365344
ACintronicDe novo--Yuen2017 G
DGKD     2-0135-004chr2:
234377317-234377317
GAintronicDe 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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