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Results for "DGKI"

Variant Events: 19

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
DGKI     AU4286302chr7:
137264265-137264265
ATintronicDe novo--Yuen2017 G
DGKI     1021012chr7:
137080409-137080409
GAexonicDe novononsynonymous SNVNM_004717c.C3016Tp.R1006W19.328.249E-6Satterstrom2020 E
DGKI     2-1291-003chr7:
137349085-137349085
CGintronicDe novo--Yuen2016 G
DGKI     2-0198-003chr7:
137130995-137130995
CTintronicDe novo--Yuen2017 G
DGKI     AU025704chr7:
137468706-137468706
AGintronicDe novo--Yuen2017 G
DGKI     AU3263302chr7:
137157441-137157441
GAintronicDe novo--Yuen2017 G
DGKI     AU4032305chr7:
137544846-137544846
TAintergenicDe novo--Yuen2017 G
DGKI     1-0007-003chr7:
137397216-137397224
CAATAATAACAATAAintronicDe novo--Yuen2017 G
DGKI     1-0446-003chr7:
137502009-137502009
ACintronicDe novo--Yuen2017 G
DGKI     AU2019302chr7:
137092301-137092308
GAAAAAAAGAAAAAAAAintronicDe novo--Yuen2017 G
DGKI     2-1154-003chr7:
137502543-137502543
CTintronicDe novo--Yuen2016 G
Yuen2017 G
DGKI     7-0077-003chr7:
137206755-137206755
GAintronicDe novo-8.119E-5Yuen2017 G
DGKI     iHART3105chr7:
137178544-137178544
CCTAexonicMaternalstopgainNM_004717c.2286_2287insTAp.V763_Q764delinsX--Ruzzo2019 G
DGKI     1-0874-003chr7:
137303386-137303386
TAintronicDe novo--Yuen2017 G
DGKI     AU4359301chr7:
137452276-137452276
GCintronicDe novo--Yuen2017 G
DGKI     iHART3103chr7:
137178544-137178544
CCTAexonicMaternalstopgainNM_004717c.2286_2287insTAp.V763_Q764delinsX--Ruzzo2019 G
DGKI     13171.p1chr7:
137289827-137289827
GAintronicDe novo--Turner2016 G
DGKI     2-1290-003chr7:
137435573-137435573
GAintronicDe novo--Yuen2017 G
DGKI     1-0191-003chr7:
137124355-137124355
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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