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Results for "DGKB"

Variant Events: 59

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
DGKB     052-09-110820chr7:
14385007-14385007
GTexonicDe novononsynonymous SNVNM_004080
NM_145695
c.C1848A
c.C1848A
p.N616K
p.N616K
16.73-Satterstrom2020 E
DGKB     1-0436-003chr7:
14189722-14189722
AAAATGintronicDe novo--Yuen2016 G
DGKB     2-1434-003chr7:
14959525-14959525
TGintergenicDe novo--Yuen2016 G
DGKB     5-0045-003chr7:
14587500-14587500
AGintronicDe novo--Yuen2017 G
DGKB     2-1269-003chr7:
14623644-14623644
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DGKB     AU2029301chr7:
14771174-14771174
GAintronicDe novo--Yuen2017 G
DGKB     1-0068-003chr7:
15179641-15179641
AGintergenicDe novo--Yuen2017 G
DGKB     1-0068-003chr7:
14874591-14874591
GAintronicDe novo--Yuen2017 G
DGKB     AU3053301chr7:
14749818-14749818
AGintronicDe novo--Yuen2017 G
DGKB     1-0377-003chr7:
14930286-14930287
CGCintergenicDe novo--Yuen2017 G
DGKB     1-0358-003chr7:
15193475-15193479
ATTTTAintergenicDe novo--Yuen2017 G
DGKB     1-0252-003chr7:
14894453-14894457
CTGATCintergenicDe novo--Yuen2017 G
DGKB     1-0435-003chr7:
15221547-15221547
TGintergenicDe novo--Yuen2017 G
DGKB     AU2458303chr7:
15093690-15093690
GAintergenicDe novo--Yuen2017 G
DGKB     AU3763305chr7:
14535558-14535558
AGintronicDe novo--Yuen2017 G
DGKB     AU2156303chr7:
15008274-15008274
CTintergenicDe novo--Yuen2017 G
DGKB     5-0133-003chr7:
14409105-14409105
GAintronicDe novo--Yuen2017 G
DGKB     1-0520-003chr7:
14862677-14862679
CATCintronicDe novo--Yuen2016 G
DGKB     1-0300-003chr7:
14199119-14199119
AGintronicDe novo--Yuen2017 G
DGKB     2-1620-004chr7:
14667365-14667365
GAintronicDe novo--Yuen2017 G
DGKB     AU4173301chr7:
14560092-14560092
AGintronicDe novo--Yuen2017 G
DGKB     AU1355301chr7:
14627519-14627519
CTintronicDe novo--Yuen2017 G
DGKB     AU3913301chr7:
14366517-14366517
TAintronicDe novo--Yuen2017 G
DGKB     7-0095-003chr7:
14674944-14674944
AGintronicDe novo--Yuen2017 G
DGKB     AU3302302chr7:
14964886-14964886
GAintergenicDe novo--Yuen2017 G
DGKB     A28chr7:
14599242-14599242
CTintronicDe novo--Wu2018 G
DGKB     1-0494-003Achr7:
14307335-14307335
CTintronicDe novo--Yuen2017 G
DGKB     2-1581-003chr7:
14538735-14538735
GCintronicDe novo--Yuen2017 G
DGKB     1-0433-004chr7:
14346797-14346797
GGCTintronicDe novo--Yuen2017 G
DGKB     1-0213-003chr7:
14475166-14475166
CTintronicDe novo--Yuen2016 G
DGKB     AU031204chr7:
15024716-15024716
GAintergenicDe novo--Yuen2017 G
DGKB     2-0289-004chr7:
14850580-14850580
AGintronicDe novo--Yuen2017 G
DGKB     AU062204chr7:
14202210-14202216
ACTATCTACTATCTATCTintronicDe novo--Yuen2017 G
DGKB     1-0494-003chr7:
14307335-14307335
CTintronicDe novo--Yuen2017 G
DGKB     12680.p1chr7:
14563287-14563287
CTintronicDe novo--Turner2016 G
DGKB     1-0514-003chr7:
14243842-14243842
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DGKB     AU046707chr7:
14863221-14863221
TCintronicDe novo--Yuen2017 G
DGKB     1-0112-003chr7:
14821681-14821681
GCintronicDe novo--Yuen2017 G
DGKB     5-0021-003chr7:
14947553-14947553
CTintergenicDe novo--Yuen2017 G
DGKB     AU2072302chr7:
14940404-14940404
GAintergenicDe novo--Yuen2017 G
DGKB     2-0126-004chr7:
14520125-14520125
GCintronicDe novo--Yuen2017 G
DGKB     1-0446-003chr7:
14768946-14768946
AGintronicDe novo--Yuen2017 G
DGKB     AU072505chr7:
14583393-14583393
CTintronicDe novo--Yuen2017 G
DGKB     2-1210-003chr7:
14400511-14400511
AGintronicDe novo--Yuen2017 G
DGKB     AU3761301chr7:
14485343-14485343
CTintronicDe novo--Yuen2017 G
DGKB     AU1725306chr7:
14595570-14595570
GTintronicDe novo--Yuen2017 G
DGKB     AU3761301chr7:
14643015-14643015
GAintronicDe novo--Yuen2017 G
DGKB     1-0232-004chr7:
15093816-15093816
GTintergenicDe novo--Yuen2017 G
DGKB     2-0126-004chr7:
14715942-14715942
AGintronicDe novo--Yuen2017 G
DGKB     2-0323-003chr7:
14612184-14612184
GAintronicDe novo--Yuen2017 G
DGKB     3-0216-000chr7:
14949623-14949623
GCintergenicDe novo--Yuen2017 G
DGKB     2-0242-003chr7:
14427017-14427017
AGintronicDe novo--Yuen2017 G
DGKB     2-0149-003chr7:
14987589-14987589
TGintergenicDe novo--Yuen2017 G
DGKB     2-1222-003chr7:
14974222-14974222
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
DGKB     AU3874302chr7:
15219966-15219966
GCintergenicDe novo--Yuen2017 G
DGKB     A13chr7:
15060167-15060167
GTintergenicDe novo--Wu2018 G
DGKB     1-0755-003chr7:
14448814-14448814
GAintronicDe novo--Yuen2017 G
DGKB     AU3937301chr7:
14994535-14994535
AGintergenicDe novo--Yuen2017 G
DGKB     AU3725302chr7:
14990984-14990984
CTintergenicDe 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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