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Results for "FBN1"

Variant Events: 29

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
FBN1     AU1988301chr15:
48844024-48844024
TCintronicDe novo--Yuen2017 G
FBN1     PN400366chr15:
48807662-48807662
GAexonicUnknownnonsynonymous SNVNM_000138c.C1390Tp.R464C20.0-Leblond2019 E
FBN1     12858.p1chr15:
48766755-48766755
CTexonicDe novononsynonymous SNVNM_000138c.G4057Ap.G1353R23.2-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
FBN1     440-04-101592chr15:
48764771-48764771
CTexonicDe novononsynonymous SNVNM_000138c.G4313Ap.S1438N27.25.766E-5Satterstrom2020 E
FBN1     2-1398-003chr15:
48949249-48949249
GAintergenicDe novo--Yuen2017 G
FBN1     AU024104chr15:
48822057-48822060
CCCGCintronicDe novo--Yuen2017 G
FBN1     1-0075-003chr15:
48724134-48724134
AGintronicDe novo--Yuen2017 G
FBN1     AU4250301chr15:
48758553-48758553
TCintronicDe novo--Yuen2017 G
FBN1     NDAR_INVLT348DHD_wes1chr15:
48720623-48720623
CTexonicDe novononsynonymous SNVNM_000138c.G6917Ap.R2306H20.31.65E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FBN1     2-1605-004chr15:
48781675-48781675
AGintronicDe novo--Yuen2017 G
FBN1     PN400514chr15:
48784699-48784699
GAexonicUnknownnonsynonymous SNVNM_000138c.C2813Tp.P938L35.0-Leblond2019 E
FBN1     2-0127-004chr15:
48779518-48779518
CTexonicDe novononsynonymous SNVNM_000138c.G3454Ap.A1152T16.491.647E-5Yuen2017 G
FBN1     2-1486-003chr15:
48716109-48716109
CAintronicDe novo--Yuen2016 G
Yuen2017 G
FBN1     PN400111chr15:
48784699-48784699
GAexonicUnknownnonsynonymous SNVNM_000138c.C2813Tp.P938L35.0-Leblond2019 E
FBN1     12687.p1chr15:
48766841-48766841
TCexonicDe novononsynonymous SNVNM_000138c.A3971Gp.N1324S15.358.246E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
FBN1     14581.p1chr15:
48780431-48780431
GAexonicDe novosynonymous SNVNM_000138c.C3216Tp.D1072D-4.12E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
FBN1     2-0142-004chr15:
48751681-48751681
TAintronicDe novo--Yuen2017 G
FBN1     Lim2017:70524chr15:
48780431-48780431
GAexonicDe novosynonymous SNVNM_000138c.C3216Tp.D1072D-4.12E-5Lim2017 E
FBN1     SSC06219chr15:
48766755-48766755
CTexonicDe novononsynonymous SNVNM_000138c.G4057Ap.G1353R23.2-Lim2017 E
FBN1     1876-23644chr15:
48788393-48788393
GAexonicnonsynonymous SNVNM_000138c.C2323Tp.L775F33.0-Callaghan2019 G
FBN1     12485.p1chr15:
48730127-48730127
TAintronicMosaic--Dou2017 E
FBN1     SSC00901chr15:
48752465-48752465
GAexonicDe novosynonymous SNVNM_000138c.C5274Tp.D1758D--Lim2017 E
FBN1     2-1383-003chr15:
48859878-48859878
CTintronicDe novo--Yuen2017 G
FBN1     11018.p1chr15:
48752465-48752465
GAexonicDe novosynonymous SNVNM_000138c.C5274Tp.D1758D--Satterstrom2020 E
FBN1     AU3638302chr15:
48786261-48786261
CTintronicDe novo--Yuen2017 G
FBN1     2-1719-003chr15:
48918402-48918402
CTintronicDe novo--Yuen2017 G
FBN1     13438.p1chr15:
48717681-48717681
GAexonicMosaicsynonymous SNVNM_000138c.C7338Tp.N2446N-1.0E-4Dou2017 E
Krupp2017 E
FBN1     G01-GEA-105-HIchr15:
48829922-48829923
GCGexonicDe novoframeshift deletionNM_000138c.621delGp.T207fs--Satterstrom2020 E
FBN1     01C07487chr15:
48744761-48744761
TCexonicDe novononsynonymous SNVNM_000138c.A5543Gp.N1848S10.61-Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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