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Results for "FBLN1"

Variant Events: 14

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
FBLN1     062-03-100282chr22:
45913433-45913433
GAintronicDe novo-6.728E-5Satterstrom2020 E
FBLN1     7-0171-003chr22:
45936468-45936468
CGintronicDe novo--Yuen2017 G
FBLN1     SP0076795chr22:
45898827-45898827
CCGGCCACCGCCGCCCACCGCCCGUTR5De novo--Fu2022 E
FBLN1     SP0106253chr22:
45970524-45970524
CTexonicDe novononsynonymous SNVNM_006486c.C1831Tp.R611C19.888.674E-6Fu2022 E
FBLN1     SP0001753chr22:
45946345-45946345
ACintronicDe novo--Fu2022 E
FBLN1     1-0482-003chr22:
45986518-45986518
CGintronicDe novo--Yuen2016 G
Yuen2017 G
FBLN1     SP0027931chr22:
45914526-45914526
TGintronicDe novo--Fu2022 E
FBLN1     2-1283-003chr22:
45988656-45988656
CTintronicDe novo--Yuen2017 G
FBLN1     2-1283-004chr22:
45988656-45988656
CTintronicDe novo--Yuen2017 G
FBLN1     2-0149-004chr22:
45948178-45948178
CTintronicDe novo--Yuen2017 G
FBLN1     5-0128-003chr22:
45991325-45991325
GAintronicDe novo--Yuen2017 G
FBLN1     12447.p1chr22:
45927118-45927118
GAintronicMosaic Pat.-1.0E-4Dou2017 E
FBLN1     PN400582chr22:
45946442-45946442
CAexonicDe novosynonymous SNVNM_001996
NM_006485
NM_006486
NM_006487
c.C1644A
c.C1644A
c.C1644A
c.C1644A
p.G548G
p.G548G
p.G548G
p.G548G
--Leblond2019 E
FBLN1     AU3724301chr22:
45991228-45991228
CTintronicDe 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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