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Results for "NVL"

Variant Events: 7

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
NVL     AU4372309chr1:
224444041-224444041
CTintronicDe novo--Yuen2017 G
NVL     156-3925chr1:
224491525-224491525
GAexonicInheritednonsynonymous SNVNM_001243146
NM_001243147
NM_206840
NM_002533
c.C212T
c.C587T
c.C542T
c.C860T
p.P71L
p.P196L
p.P181L
p.P287L
26.82.497E-5Patowary2019 E
NVL     2-1235-004chr1:
224418565-224418565
GAintronicDe novo--Yuen2017 G
NVL     2-1567-003chr1:
224445713-224445713
TTTGAintronicDe novo--Yuen2017 G
NVL     AU2975302chr1:
224542763-224542766
TCCCTCCintergenicDe novo--Yuen2017 G
NVL     AU2162302chr1:
224440146-224440146
CTintronicDe novo--Yuen2017 G
NVL     13556.p1chr1:
224477160-224477160
ATintronicDe novo--Satterstrom2020 E
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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