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Results for "FBN2"

Variant Events: 54

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
FBN2     1-0383-003chr5:
128130378-128130378
GCintergenicDe novo--Yuen2017 G
FBN2     A11051-2chr5:
127863565-127863565
GAexonicUnknownnonsynonymous SNVNM_001999c.C532Tp.P178S20.22.563E-5Li2017 T
FBN2     AU024105chr5:
127980785-127980785
ACintergenicDe novo--Yuen2017 G
FBN2     AU4093302chr5:
127719463-127719463
CTintronicDe novo--Yuen2017 G
FBN2     AU3634301chr5:
128275236-128275236
CTintergenicDe novo--Yuen2017 G
FBN2     AU1894303chr5:
127805032-127805032
GAintronicDe novo--Yuen2017 G
FBN2     PN400150chr5:
127664436-127664436
CTexonicUnknownnonsynonymous SNVNM_001999c.G4423Ap.E1475K36.03.31E-5Leblond2019 E
FBN2     Li2017:21837chr5:
127673784-127673784
AGexonicUnknownnonsynonymous SNVNM_001999c.T3503Cp.L1168P24.68.264E-6Li2017 T
FBN2     AU3809302chr5:
127986943-127986943
CTintergenicDe novo--Yuen2017 G
FBN2     2-1366-003chr5:
128126987-128126988
CTCintergenicDe novo--Yuen2017 G
FBN2     Li2017:23092chr5:
127714532-127714532
GAexonicUnknownnonsynonymous SNVNM_001999c.C1655Tp.T552I21.3-Li2017 T
FBN2     1-0263-003chr5:
127926071-127926071
TAintergenicDe novo--Yuen2016 G
FBN2     Li2017:19675chr5:
127727761-127727761
CAexonicUnknownnonsynonymous SNVNM_001999c.G1553Tp.R518L24.38.245E-6Li2017 T
FBN2     A12chr5:
127597456-127597457
CTCexonicDe novoframeshift deletionNM_001999c.8335delAp.R2779fs--Wu2018 G
FBN2     1-0494-003Achr5:
127962183-127962183
TCintergenicDe novo--Yuen2017 G
FBN2     2-1189-003chr5:
127677978-127677978
GAintronicDe novo--Yuen2016 G
Yuen2017 G
FBN2     1-0271-003chr5:
127950384-127950384
TCintergenicDe novo--Yuen2017 G
FBN2     Li2017:23157chr5:
127674748-127674748
CTexonicUnknownnonsynonymous SNVNM_001999c.G3349Ap.D1117N21.83.313E-5Li2017 T
FBN2     2-1338-003chr5:
127931712-127931712
GCintergenicDe novo--Yuen2017 G
FBN2     2-1378-003chr5:
128163126-128163126
AGintergenicDe novo--Yuen2017 G
FBN2     AU1223301chr5:
127920693-127920693
CTintergenicDe novo--Yuen2017 G
FBN2     Li2017:4chr5:
127599294-127599294
GTexonicUnknownnonsynonymous SNVNM_001999c.C8015Ap.T2672N23.6-Li2017 T
FBN2     5-0131-003chr5:
128163512-128163512
TCintergenicDe novo--Yuen2017 G
FBN2     2-1415-004chr5:
128149492-128149492
TGintergenicDe novo--Yuen2017 G
FBN2     AU4260303chr5:
127634519-127634519
TCintronicDe novo--Yuen2017 G
FBN2     1-0514-003chr5:
128137262-128137262
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
FBN2     2-1336-004chr5:
128282461-128282461
GCintergenicDe novo--Yuen2017 G
FBN2     Li2017:17674chr5:
127599294-127599294
GTexonicUnknownnonsynonymous SNVNM_001999c.C8015Ap.T2672N23.6-Li2017 T
FBN2     AU4269301chr5:
128213289-128213289
AGintergenicDe novo--Yuen2017 G
FBN2     Li2017:20256chr5:
127636521-127636521
CTexonicUnknownnonsynonymous SNVNM_001999c.G6154Ap.E2052K33.08.237E-6Li2017 T
FBN2     iHART2908chr5:
127713489-127713490
CACexonicPaternalframeshift deletionNM_001999c.1804delTp.C602fs--Ruzzo2019 G
FBN2     14416.p1chr5:
128144158-128144158
TCintergenicDe novo--Wilfert2021 G
FBN2     iHART2691chr5:
127626573-127626577
GTATCGexonicMaternalnonframeshift deletionNM_001999c.6293_6295delp.2098_2099del--Ruzzo2019 G
FBN2     2-0109-003chr5:
128237404-128237404
AGintergenicDe novo--Yuen2017 G
FBN2     AU1894304chr5:
128153280-128153280
GAintergenicDe novo--Yuen2017 G
FBN2     1-0158-012chr5:
127728960-127728960
TCexonicDe novononsynonymous SNVNM_001999c.A1333Gp.S445G5.8743.299E-5Yuen2017 G
FBN2     2-0318-003chr5:
128287823-128287823
AGintergenicDe novo--Yuen2017 G
FBN2     AU2089301chr5:
127738264-127738264
TCintronicDe novo--Yuen2017 G
FBN2     AU3779304chr5:
127778579-127778579
GAintronicDe novo--Yuen2017 G
FBN2     Li2017:18354chr5:
127625580-127625580
GAexonicUnknownnonsynonymous SNVNM_001999c.C6505Tp.R2169C20.7-Li2017 T
FBN2     Li2017:18354chr5:
127681171-127681171
GCexonicUnknownnonsynonymous SNVNM_001999c.C3095Gp.A1032G25.0-Li2017 T
FBN2     1-0126-004chr5:
128038119-128038119
TGintergenicDe novo--Yuen2017 G
FBN2     Li2017:27806chr5:
127714583-127714583
TCexonicUnknownnonsynonymous SNVNM_001999c.A1604Gp.D535G21.7-Li2017 T
FBN2     AU3782303chr5:
127985314-127985314
CGintergenicDe novo--Yuen2017 G
FBN2     SP0002235chr5:
127713510-127713511
TCTexonicDe novoframeshift deletionNM_001999c.1783delGp.D595fs--Feliciano2019 E
FBN2     1-0107-003chr5:
128172458-128172458
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
FBN2     AU3368302chr5:
127916749-127916749
TCintergenicDe novo--Yuen2017 G
FBN2     Li2017:20559chr5:
127700391-127700391
TAexonicUnknownnonsynonymous SNVNM_001999c.A2330Tp.D777V15.61-Li2017 T
FBN2     Li2017:18470chr5:
127702120-127702120
TGexonicDe novononsynonymous SNVNM_001999c.A2252Cp.E751A15.47.317E-5Li2017 T
FBN2     AU1988302chr5:
128146013-128146013
CGintergenicDe novo--Yuen2017 G
FBN2     1-0567-004chr5:
127745971-127745971
GTintronicDe novo--Yuen2017 G
FBN2     AU4056301chr5:
128035953-128035953
ACintergenicDe novo--Yuen2017 G
FBN2     2-1511-003chr5:
128090718-128090733
AAGAGAGAGAGAGAGAAAGAGAGAGAGAGAintergenicDe novo--Yuen2017 G
FBN2     A09006-2chr5:
127597456-127597457
CTCexonicUnknownframeshift deletionNM_001999c.8335delAp.R2779fs--Li2017 T
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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