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Results for "FLVCR2"

Variant Events: 8

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
FLVCR2     AU3302302chr14:
76081608-76081608
TAintronicDe novo--Yuen2017 G
FLVCR2     1-0160-004chr14:
76067808-76067808
GAintronicDe novo--Yuen2017 G
FLVCR2     2-0126-004chr14:
76047452-76047452
GTintronicDe novo--Yuen2017 G
FLVCR2     AU2075301chr14:
76086274-76086274
CTintronicDe novo--Yuen2017 G
FLVCR2     iHART3183chr14:
76100028-76100029
TGTexonicPaternalframeshift deletionNM_001195283
NM_017791
c.395delG
c.1010delG
p.W132fs
p.W337fs
-8.236E-6Ruzzo2019 G
FLVCR2     14037.p1chr14:
76045663-76045663
CTexonicMosaicsynonymous SNVNM_017791c.C348Tp.Y116Y--Dou2017 E
Krupp2017 E
FLVCR2     AU005214chr14:
76054779-76054779
AGintronicDe novo--Yuen2017 G
FLVCR2     AU4237301chr14:
76102183-76102183
GCintronicDe 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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