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Results for "DGKH"

Variant Events: 10

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
DGKH     2-1696-003chr13:
42624549-42624549
TAintronicDe novo--Yuen2017 G
DGKH     3-0134-000chr13:
42780568-42780568
TCintronicDe novo--Yuen2017 G
DGKH     A13chr13:
42800795-42800795
GTintronicDe novo--Wu2018 G
DGKH     AU054304chr13:
42833475-42833475
GAintergenicDe novo--Yuen2017 G
DGKH     5-0123-003chr13:
42775824-42775824
ACintronicDe novo--Yuen2017 G
DGKH     04HI3433Achr13:
42739491-42739491
TCexonicDe novononsynonymous SNVNM_001297429
NM_001204505
NM_001204506
NM_152910
NM_178009
NM_001204504
c.T145C
c.T472C
c.T472C
c.T880C
c.T880C
c.T880C
p.Y49H
p.Y158H
p.Y158H
p.Y294H
p.Y294H
p.Y294H
12.59-Satterstrom2020 E
DGKH     iHART2366chr13:
42773953-42773953
CTexonicPaternalstopgainNM_001297429
NM_001204505
NM_001204506
NM_152910
NM_178009
NM_001204504
c.C1666T
c.C1993T
c.C1993T
c.C2401T
c.C2401T
c.C2401T
p.R556X
p.R665X
p.R665X
p.R801X
p.R801X
p.R801X
40.02.508E-5Ruzzo2019 G
DGKH     11671.p1chr13:
42780220-42780220
GCexonicMosaic Mat.nonsynonymous SNVNM_001297429
NM_001204505
NM_001204506
NM_152910
NM_178009
NM_001204504
c.G1804C
c.G2131C
c.G2131C
c.G2539C
c.G2539C
c.G2539C
p.V602L
p.V711L
p.V711L
p.V847L
p.V847L
p.V847L
25.1-Dou2017 E
DGKH     iHART2546chr13:
42769123-42769124
CTCexonicMaternalframeshift deletionNM_001297429
NM_001204505
NM_001204506
NM_152910
NM_178009
NM_001204504
c.1404delT
c.1731delT
c.1731delT
c.2139delT
c.2139delT
c.2139delT
p.P468fs
p.P577fs
p.P577fs
p.P713fs
p.P713fs
p.P713fs
--Ruzzo2019 G
DGKH     5-0106-003chr13:
42633408-42633408
CTintronicDe 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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