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Results for "NF2"

Variant Events: 5

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
NF2     TAS_F5044Ychr22:
30032936-30032936
AGintronicDe novo--Satterstrom2020 E
NF2     P019chr22:
30069261-30069261
CTexonicDe novononsynonymous SNVNM_181830
NM_181831
NM_181828
NM_181829
NM_000268
NM_016418
NM_181825
NM_181832
c.C877T
c.C877T
c.C1000T
c.C1003T
c.C1126T
c.C1126T
c.C1126T
c.C1126T
p.R293W
p.R293W
p.R334W
p.R335W
p.R376W
p.R376W
p.R376W
p.R376W
23.4-Long2019 ET
NF2     2-1416-004chr22:
30039323-30039323
AGintronicDe novo--Yuen2017 G
NF2     11010.p1chr22:
30090798-30090798
ACUTR3De novo17.65.0E-4Satterstrom2020 E
NF2     2-1322-003chr22:
30075328-30075328
CGintronicDe 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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