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Results for "ENOX1"

Variant Events: 37

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
ENOX1     1-0551-004chr13:
44080865-44080865
CTintronicDe novo--Yuen2017 G
ENOX1     1-0345-003chr13:
43808425-43808425
GTintronicDe novo--Yuen2017 G
ENOX1     AU049304chr13:
44376008-44376008
TAintergenicDe novo--Yuen2017 G
ENOX1     1-0566-003chr13:
44224659-44224659
CAintronicDe novo--Yuen2017 G
ENOX1     AU2140305chr13:
43850375-43850375
GAintronicDe novo--Yuen2017 G
ENOX1     1-0233-004chr13:
43960349-43960349
TGintronicDe novo--Yuen2017 G
ENOX1     2-0289-003chr13:
44080865-44080865
CTintronicDe novo--Yuen2017 G
ENOX1     2-0070-003chr13:
44235243-44235243
TGintronicDe novo--Yuen2017 G
ENOX1     2-0202-004chr13:
43840682-43840682
CTintronicDe novo--Yuen2017 G
ENOX1     AU1404301chr13:
44099314-44099314
ACintronicDe novo--Yuen2017 G
ENOX1     13143.p1chr13:
43852353-43852353
CTintronicDe novo--Wilfert2021 G
ENOX1     5-0017-003chr13:
44080865-44080865
CTintronicDe novo--Yuen2017 G
ENOX1     5-0109-003chr13:
43990569-43990569
GAintronicDe novo--Yuen2017 G
ENOX1     iHART2542chr13:
43839592-43839592
TCsplicingMaternalsplicing20.7-Ruzzo2019 G
ENOX1     1-0286-004chr13:
43832465-43832465
TCintronicDe novo--Yuen2017 G
ENOX1     AU3866301chr13:
44229700-44229700
AGintronicDe novo--Yuen2017 G
ENOX1     AU058104chr13:
43834085-43834085
CTintronicDe novo--Yuen2017 G
ENOX1     AU1952305chr13:
43828508-43828508
CTintronicDe novo--Yuen2017 G
ENOX1     14153.p1chr13:
43967696-43967696
TCintronicDe novo--Turner2016 G
ENOX1     2-1635-004chr13:
44037597-44037597
TCintronicDe novo--Yuen2017 G
ENOX1     1-0253-004chr13:
44391025-44391025
ATintergenicDe novo--Yuen2017 G
ENOX1     2-1455-003chr13:
43861733-43861733
TGintronicDe novo--Yuen2016 G
Yuen2017 G
ENOX1     2-0019-004chr13:
43818797-43818797
GAintronicDe novo--Yuen2017 G
ENOX1     AU061003chr13:
44159366-44159366
CGintronicDe novo--Yuen2017 G
ENOX1     2-0244-003chr13:
44212758-44212758
CAintronicDe novo--Yuen2017 G
ENOX1     1-0382-003chr13:
43890102-43890102
CTintronicDe novo--Yuen2017 G
ENOX1     AU3076302chr13:
44289200-44289200
ATintronicDe novo--Yuen2017 G
ENOX1     2-1107-003chr13:
44143068-44143068
TGintronicDe novo--Yuen2016 G
Yuen2017 G
ENOX1     AU3680301chr13:
44325969-44325969
CGintronicDe novo--Yuen2017 G
ENOX1     AU4379301chr13:
43866352-43866352
CTintronicDe novo--Yuen2017 G
ENOX1     2-1389-003chr13:
44239080-44239080
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ENOX1     2-1342-003chr13:
44203676-44203676
GTintronicDe novo--Yuen2016 G
Yuen2017 G
ENOX1     2-1522-003chr13:
43953273-43953273
GAintronicDe novo--Yuen2017 G
ENOX1     1-0652-004chr13:
44080882-44080882
CAintronicDe novo--Yuen2017 G
ENOX1     AU1542303chr13:
44150610-44150610
GAintronicDe novo--Yuen2017 G
ENOX1     AU4067301chr13:
43966974-43966974
CTintronicDe novo--Yuen2017 G
ENOX1     1-0373-003chr13:
44080893-44080893
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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