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Results for "OGDH"

Variant Events: 11

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
OGDH     1-0169-004chr7:
44748310-44748311
GCGUTR3De novo--Yuen2017 G
OGDH     AU4250301chr7:
44765863-44765863
TAintergenicDe novo--Yuen2017 G
OGDH     2-0244-003chr7:
44661552-44661552
ACintronicDe novo--Yuen2017 G
OGDH     7-0215-003chr7:
44784133-44784133
TCintergenicDe novo--Yuen2017 G
OGDH     13926.p1chr7:
44737885-44737885
GCintronicDe novo-8.796E-5Satterstrom2020 E
OGDH     09C99309chr7:
44734101-44734101
AGexonicDe novononsynonymous SNVNM_001165036
NM_002541
c.A1582G
c.A1594G
p.K528E
p.K532E
15.23-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
OGDH     AU3849302chr7:
44656263-44656263
TCintronicDe novo--Yuen2017 G
OGDH     AU4250301chr7:
44765844-44765844
CGintergenicDe novo--Yuen2017 G
OGDH     13942.p1chr7:
44778304-44778304
GTintergenicDe novo--Turner2016 G
OGDH     2-1444-003chr7:
44729219-44729219
AGintronicDe novo--Yuen2017 G
OGDH     1-0024-003chr7:
44761223-44761223
CTintergenicDe novo--Yuen2016 G
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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