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Results for "FLVCR1"

Variant Events: 12

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
FLVCR1     AU3728301chr1:
213083347-213083347
CAintergenicDe novo--Yuen2017 G
FLVCR1     1-0435-003chr1:
213112996-213112996
CTintergenicDe novo--Yuen2017 G
FLVCR1     SMHC01432s000chr1:
213056746-213056746
CTexonicDe novononsynonymous SNVNM_014053c.C1058Tp.T353M24.02.129E-5Yuan2023 E
FLVCR1     1-0294-003chr1:
213066213-213066213
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
FLVCR1     2-0242-005chr1:
213050870-213050870
GCintronicDe novo--Trost2022 G
Yuen2017 G
FLVCR1     AU3807302chr1:
213042314-213042314
TCintronicDe novo--Trost2022 G
Yuen2017 G
FLVCR1     DEASD_0118_001chr1:
213061871-213061871
GAexonicDe novononsynonymous SNVNM_014053c.G1348Ap.A450T35.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
FLVCR1     2-1735-003chr1:
213118921-213118921
CTintergenicDe novo--Yuen2017 G
FLVCR1     MSSNG00254-003chr1:
213036338-213036338
AGintronicDe novo--Trost2022 G
FLVCR1     MSSNG00039-004chr1:
213032718-213032718
AGintronicDe novo--Trost2022 G
FLVCR1     1-0304-003chr1:
213070184-213070197
ACCCCATCTCTACTAUTR3De novo--Yuen2016 G
FLVCR1     AU2687301chr1:
213059599-213059599
GAintronicDe novo--Trost2022 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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