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Results for "ENAH"

Variant Events: 18

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
ENAH     2-0503-003chr1:
225936308-225936308
CGintergenicDe novo--Yuen2017 G
ENAH     3-0185-000chr1:
225952566-225952566
GAintergenicDe novo--Yuen2017 G
ENAH     7-0247-003chr1:
225896272-225896272
AGintergenicDe novo--Yuen2017 G
ENAH     2-0503-004chr1:
225936308-225936308
CGintergenicDe novo--Yuen2017 G
ENAH     AU2437302chr1:
225829611-225829611
TCintronicDe novo--Yuen2017 G
ENAH     AU3637301chr1:
225931527-225931527
CTintergenicDe novo--Yuen2017 G
ENAH     AU4308302chr1:
225948483-225948483
CTintergenicDe novo--Yuen2017 G
ENAH     2-0219-004chr1:
225687645-225687649
TTAAATintronicDe novo--Yuen2017 G
ENAH     1-0777-003chr1:
225686988-225686998
TAAATAATGCATintronicDe novo--Yuen2017 G
ENAH     2-1350-004chr1:
225953438-225953438
CTintergenicDe novo--Yuen2017 G
ENAH     5-0015-003chr1:
225901681-225901681
GAintergenicDe novo--Yuen2017 G
ENAH     AU4056302chr1:
225716274-225716274
CTintronicDe novo--Yuen2017 G
ENAH     2-1455-003chr1:
225824026-225824026
GAintronicDe novo--Yuen2017 G
ENAH     AU2029301chr1:
225857947-225857947
CTintergenicDe novo--Yuen2017 G
ENAH     7-0140-003chr1:
225864476-225864476
CAintergenicDe novo--Yuen2017 G
ENAH     AU0780302chr1:
225828591-225828591
CAintronicDe novo--Yuen2017 G
ENAH     11641.p1chr1:
225685988-225685988
TCintronicDe novo--Werling2018 G
ENAH     1-0706-003chr1:
225766710-225766710
TCintronicDe 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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