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Results for "FBN3"

Variant Events: 27

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
FBN3     EGAN00001101093chr19:
8210846-8210846
AGintronicDe novo--Satterstrom2020 E
FBN3     CC1081.202chr19:
8210844-8210844
GAintronicDe novo--Satterstrom2020 E
FBN3     Cukier2014:7590chr19:
8175770-8175770
TAexonicUnknownnonsynonymous SNVNM_032447c.A4292Tp.N1431I7.4590.0035Cukier2014 E
FBN3     Cukier2014:37674chr19:
8183871-8183871
GAexonicUnknownnonsynonymous SNVNM_032447c.C3247Tp.R1083W16.290.0635Cukier2014 E
FBN3     SP0026222chr19:
8188378-8188378
CTexonicDe novononsynonymous SNVNM_032447c.G3052Ap.A1018T11.956.772E-5Fu2022 E
FBN3     SP0131432chr19:
8194035-8194035
CTexonicDe novononsynonymous SNVNM_032447c.G2173Ap.V725M13.958.341E-6Fu2022 E
FBN3     SP0050310chr19:
8188469-8188469
CGexonicDe novosynonymous SNVNM_032447c.G2961Cp.V987V--Fu2022 E
FBN3     SP0070186chr19:
8140220-8140220
CTexonicDe novononsynonymous SNVNM_032447c.G7529Ap.R2510H9.8574.0E-4Fu2022 E
FBN3     ASC_CA_68_Achr19:
8146051-8146051
ATintronicDe novo--Satterstrom2020 E
FBN3     111120chr19:
8191204-8191204
CAexonicDe novononsynonymous SNVNM_032447c.G2582Tp.R861L7.975-Fu2022 E
FBN3     SP0104241chr19:
8188889-8188889
ACexonicDe novononsynonymous SNVNM_032447c.T2735Gp.V912G12.1-Fu2022 E
FBN3     SP0069376chr19:
8206917-8206917
GCexonicDe novononsynonymous SNVNM_032447c.C646Gp.R216G17.52-Fu2022 E
FBN3     AU4233301chr19:
8142519-8142519
TCintronicDe novo--Yuen2017 G
FBN3     1-0567-003chr19:
8262249-8262249
TCintergenicDe novo--Yuen2017 G
FBN3     SP0016289chr19:
8186337-8186337
GCintronicDe novo--Fu2022 E
FBN3     SP0033777chr19:
8181524-8181524
CAintronicDe novo--Fu2022 E
FBN3     4365_18auchr19:
8201112-8201112
GAexonicDe novononsynonymous SNVNM_032447c.C1427Tp.P476L5.5142.528E-5Fu2022 E
FBN3     iHART3248chr19:
8161801-8161801
GAexonicMaternalstopgainNM_032447c.C5377Tp.R1793X44.02.474E-5Ruzzo2019 G
FBN3     SSC09758chr19:
8176027-8176027
GAexonicDe novosynonymous SNVNM_032447c.C4125Tp.N1375N-1.693E-5Fu2022 E
Lim2017 E
FBN3     DEASD_0402_001chr19:
8176973-8176973
TCexonicDe novosynonymous SNVNM_032447c.A3849Gp.E1283E--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FBN3     SSC02555chr19:
8167608-8167608
GAexonicDe novononsynonymous SNVNM_032447c.C5089Tp.P1697S0.3888.25E-6Fu2022 E
Lim2017 E
FBN3     AU4235301chr19:
8138109-8138109
CTexonicDe novononsynonymous SNVNM_032447c.G7775Ap.R2592H19.481.0E-4Yuen2017 G
FBN3     11122.p1chr19:
8167608-8167608
GAexonicDe novononsynonymous SNVNM_032447c.C5089Tp.P1697S0.3888.25E-6Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
FBN3     5-0015-003chr19:
8262854-8262854
GAintergenicDe novo--Yuen2017 G
FBN3     13993.p1chr19:
8176027-8176027
GAexonicDe novosynonymous SNVNM_032447c.C4125Tp.N1375N-1.693E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
FBN3     1-0485-003chr19:
8188953-8188953
GTintronicDe novo--Yuen2017 G
FBN3     AU3951302chr19:
8220539-8220539
AGintergenicDe 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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