or
or
Exact

Results for "EGLN3"

Variant Events: 17

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
EGLN3     5-0045-003chr14:
34658767-34658767
TCintergenicDe novo--Yuen2017 G
EGLN3     AU047904chr14:
34809590-34809590
AGintergenicDe novo--Yuen2017 G
EGLN3     1-0329-004chr14:
34812294-34812296
CTGCintergenicDe novo--Yuen2017 G
EGLN3     2-1626-003chr14:
34890175-34890175
GAintergenicDe novo--Yuen2017 G
EGLN3     AU072905chr14:
34896396-34896396
GAintergenicDe novo--Yuen2017 G
EGLN3     2-0182-003chr14:
34553751-34553751
CTintergenicDe novo--Yuen2017 G
EGLN3     2-1729-003chr14:
34407825-34407825
AGintronicDe novo--Yuen2017 G
EGLN3     AU2109302chr14:
34721096-34721096
ATintergenicDe novo--Yuen2017 G
EGLN3     AU4359301chr14:
34450175-34450175
CGintergenicDe novo--Yuen2017 G
EGLN3     2-1514-003chr14:
34523166-34523166
CTintergenicDe novo--Yuen2017 G
EGLN3     AU4079302chr14:
34626492-34626492
TCintergenicDe novo--Yuen2017 G
EGLN3     AU4145303chr14:
34676276-34676276
TCintergenicDe novo--Yuen2017 G
EGLN3     74-0352chr14:
34518928-34518928
CTintergenicDe novo--Michaelson2012 G
EGLN3     1-0511-003chr14:
34782027-34782046
CCTTCTTCTTCTTCTTCTTCCCTTCTTCTTCTTCTTCintergenicDe novo--Yuen2017 G
EGLN3     1-0526-003chr14:
34437745-34437745
TCintergenicDe novo--Yuen2017 G
EGLN3     2-0307-003chr14:
34574123-34574123
ACintergenicDe novo--Yuen2017 G
EGLN3     2-1399-003chr14:
34487840-34487840
CTintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More