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Results for "NGF"

Variant Events: 24

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
NGF     AU061104chr1:
116062719-116062723
TAATGTAATGAATGintergenicDe novo--Yuen2017 G
NGF     1-0294-003chr1:
116014294-116014294
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NGF     AU047904chr1:
115844686-115844686
CTintronicDe novo--Yuen2017 G
NGF     2-1314-003chr1:
116152147-116152147
CAintergenicDe novo--Yuen2016 G
NGF     5-0041-003chr1:
115961793-115961793
CTintergenicDe novo--Yuen2017 G
NGF     2-1364-003chr1:
115944204-115944207
GCTCGCintergenicDe novo--Yuen2017 G
NGF     1-0226-005chr1:
115934392-115934392
TCintergenicDe novo--Yuen2017 G
NGF     1-0863-003chr1:
116079951-116079951
ACintergenicDe novo--Yuen2017 G
NGF     2-0202-004chr1:
115944078-115944079
TGTintergenicDe novo--Yuen2017 G
NGF     2-1508-004chr1:
116081286-116081286
ACintergenicDe novo--Yuen2017 G
NGF     AU4054301chr1:
116062039-116062039
TCintergenicDe novo--Yuen2017 G
NGF     2-1617-003chr1:
115844665-115844665
GAintronicDe novo--Yuen2017 G
NGF     AU031203chr1:
116135615-116135615
GTintergenicDe novo--Yuen2017 G
NGF     AU054304chr1:
115885584-115885584
AGintergenicDe novo--Yuen2017 G
NGF     AU4188302chr1:
115827860-115827860
GAdownstreamDe novo--Yuen2017 G
NGF     2-0028-003chr1:
116010871-116010871
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NGF     Al-Mubarak2017:ASD-43chr1:
115829056-115829056
GAexonicUnknownnonsynonymous SNVNM_002506c.C361Tp.R121W16.33-Al-Mubarak2017 E
NGF     1-0186-004chr1:
116133756-116133756
TCintergenicDe novo--Yuen2017 G
NGF     2-1561-003chr1:
116100700-116100700
CTintergenicDe novo--Yuen2017 G
NGF     5-0123-003chr1:
115953313-115953313
CTintergenicDe novo--Yuen2017 G
NGF     2-1511-003chr1:
116046137-116046137
GAintergenicDe novo--Yuen2017 G
NGF     1-0279-004chr1:
116036998-116036998
GTintergenicDe novo--Yuen2017 G
NGF     5-0109-003chr1:
116161278-116161278
GAintergenicDe novo--Yuen2017 G
NGF     1-0339-004chr1:
115907604-115907604
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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