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Results for "NHLRC3"

Variant Events: 13

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
NHLRC3     AU1404302chr13:
39876995-39876995
TCintergenicDe novo--Yuen2017 G
NHLRC3     1-0720-003chr13:
39879120-39879120
TCintergenicDe novo--Yuen2017 G
NHLRC3     2-0296-004chr13:
39649272-39649272
AGintergenicDe novo--Yuen2017 G
NHLRC3     AU030703chr13:
39772351-39772351
GTintergenicDe novo--Yuen2017 G
NHLRC3     AU3506303chr13:
39903303-39903303
CTintergenicDe novo--Yuen2017 G
NHLRC3     AU3051302chr13:
39774069-39774069
GTintergenicDe novo--Yuen2017 G
NHLRC3     2-1313-003chr13:
39902405-39902405
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
NHLRC3     3-0391-000chr13:
39855284-39855284
AGintergenicDe novo--Yuen2017 G
NHLRC3     AU2569303chr13:
39702473-39702473
TCintergenicDe novo--Yuen2017 G
NHLRC3     74-0115chr13:
39827232-39827232
GTintergenicDe novo--Michaelson2012 G
NHLRC3     AU3053302chr13:
39747173-39747173
AGintergenicDe novo--Yuen2017 G
NHLRC3     AU051504chr13:
39794359-39794359
TCintergenicDe novo--Yuen2017 G
NHLRC3     7-0194-003chr13:
39775340-39775340
GAintergenicDe 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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