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Results for "FBN3"

Variant Events: 17

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     iHART3248chr19:
8161801-8161801
GAexonicMaternalstopgainNM_032447c.C5377Tp.R1793X44.02.474E-5Ruzzo2019 G
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     SSC09758chr19:
8176027-8176027
GAexonicDe novosynonymous SNVNM_032447c.C4125Tp.N1375N-1.693E-5Lim2017 E
FBN3     DEASD_0402_001chr19:
8176973-8176973
TCexonicDe novosynonymous SNVNM_032447c.A3849Gp.E1283E--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FBN3     Cukier2014:37674chr19:
8183871-8183871
GAexonicUnknownnonsynonymous SNVNM_032447c.C3247Tp.R1083W16.290.0635Cukier2014 E
FBN3     SSC02555chr19:
8167608-8167608
GAexonicDe novononsynonymous SNVNM_032447c.C5089Tp.P1697S0.3888.25E-6Lim2017 E
FBN3     AU4235301chr19:
8138109-8138109
CTexonicDe novononsynonymous SNVNM_032447c.G7775Ap.R2592H19.481.0E-4Yuen2017 G
FBN3     ASC_CA_68_Achr19:
8146051-8146051
ATintronicDe novo--Satterstrom2020 E
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     AU4233301chr19:
8142519-8142519
TCintronicDe novo--Yuen2017 G
FBN3     1-0485-003chr19:
8188953-8188953
GTintronicDe novo--Yuen2017 G
FBN3     1-0567-003chr19:
8262249-8262249
TCintergenicDe novo--Yuen2017 G
FBN3     AU3951302chr19:
8220539-8220539
AGintergenicDe novo--Yuen2017 G
Source Variant Information

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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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