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Results for "FBXL13"

Variant Events: 46

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
FBXL13     1-0299-004chr7:
102488814-102488814
TCintronicDe novo--Yuen2017 G
FBXL13     1-0656-003chr7:
102597585-102597585
TCintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     5-0040-003chr7:
102550734-102550734
TCintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     1-0593-003chr7:
102640055-102640055
TCintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     AU3794301chr7:
102710715-102710715
AGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     1-0763-003chr7:
102488929-102488929
AGintronicDe novo--Yuen2017 G
FBXL13     iHART1106chr7:
102523773-102523775
AACAexonicPaternalframeshift deletionNM_001111038
NM_001287150
NM_145032
c.1365_1366del
c.1365_1366del
c.1365_1366del
p.V455fs
p.V455fs
p.V455fs
--Ruzzo2019 G
FBXL13     1-0651-003chr7:
102713049-102713049
TGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     AU4028302chr7:
102502209-102502211
ACCAintronicDe novo--Yuen2017 G
FBXL13     AU015903chr7:
102596441-102596441
AGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     7-0128-003chr7:
102482736-102482736
CAintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     1-0751-003chr7:
102470282-102470282
GAintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     2-1632-003chr7:
102539803-102539803
GCintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     AU1988301chr7:
102665590-102665590
GAexonicPaternalstopgainNM_001111038
NM_001287150
NM_145032
c.C415T
c.C415T
c.C415T
p.R139X
p.R139X
p.R139X
17.293.547E-5Cirnigliaro2023 G
FBXL13     mAGRE5624chr7:
102604105-102604109
AAATCAexonicPaternalframeshift deletionNM_001111038
NM_001287150
NM_145032
c.595_598del
c.595_598del
c.595_598del
p.D199fs
p.D199fs
p.D199fs
-3.335E-5Cirnigliaro2023 G
FBXL13     mAGRE5622chr7:
102604105-102604109
AAATCAexonicPaternalframeshift deletionNM_001111038
NM_001287150
NM_145032
c.595_598del
c.595_598del
c.595_598del
p.D199fs
p.D199fs
p.D199fs
-3.335E-5Cirnigliaro2023 G
FBXL13     mAGRE4586chr7:
102572327-102572327
CTsplicingPaternalsplicing18.018.247E-6Cirnigliaro2023 G
FBXL13     mAGRE4584chr7:
102572327-102572327
CTsplicingPaternalsplicing18.018.247E-6Cirnigliaro2023 G
FBXL13     mAGRE1106chr7:
102523773-102523775
AACAexonicPaternalframeshift deletionNM_001111038
NM_001287150
NM_145032
c.1365_1366del
c.1365_1366del
c.1365_1366del
p.V455fs
p.V455fs
p.V455fs
--Cirnigliaro2023 G
FBXL13     mAGRE4370chr7:
102518012-102518012
GAexonicPaternalstopgainNM_001111038
NM_001287150
NM_145032
c.C1537T
c.C1537T
c.C1537T
p.R513X
p.R513X
p.R513X
39.01.0E-4Cirnigliaro2023 G
FBXL13     2-1220-003chr7:
102679008-102679008
GAintronicDe novo--Yuen2016 G
Yuen2017 G
FBXL13     AU1988302chr7:
102665590-102665590
GAexonicPaternalstopgainNM_001111038
NM_001287150
NM_145032
c.C415T
c.C415T
c.C415T
p.R139X
p.R139X
p.R139X
17.293.547E-5Cirnigliaro2023 G
FBXL13     AU072504chr7:
102477296-102477296
CGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     REACH000349chr7:
102470952-102470952
GCintronicDe novo--Trost2022 G
FBXL13     2-1760-003chr7:
102508597-102508597
TGintronicDe novo--Trost2022 G
FBXL13     MSSNG00053-003chr7:
102464785-102464785
CCAintronicDe novo--Trost2022 G
FBXL13     1-0565-003chr7:
102667126-102667126
AGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     SMHC01971s000chr7:
102518012-102518012
GAexonicDe novostopgainNM_001111038
NM_001287150
NM_145032
c.C1537T
c.C1537T
c.C1537T
p.R513X
p.R513X
p.R513X
39.01.0E-4Yuan2023 E
FBXL13     1-0566-003chr7:
102650987-102650987
CTintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     2-1776-003chr7:
102648685-102648689
TAAAGTintronicDe novo--Trost2022 G
FBXL13     3-0742-000chr7:
102655096-102655096
CTintronicDe novo--Trost2022 G
FBXL13     2-0003-004chr7:
102587955-102587955
ACintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     AU3903301chr7:
102586333-102586334
ATAintronicDe novo--Trost2022 G
Trost2022 G
FBXL13     2-1114-003chr7:
102510418-102510418
AGintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     1-0201-005chr7:
102591031-102591034
ATTTGAAGGAAintronicDe novo--Trost2022 G
FBXL13     AU061104chr7:
102479657-102479657
CAintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     7-0281-003chr7:
102557704-102557704
AAGintronicDe novo--Trost2022 G
Trost2022 G
FBXL13     MSSNG00344-003chr7:
102569585-102569585
GTintronicDe novo--Trost2022 G
Trost2022 G
FBXL13     7-0457-003chr7:
102515697-102515697
AGintronicDe novo--Trost2022 G
FBXL13     AU2193301chr7:
102556292-102556292
GCintronicDe novo--Trost2022 G
Trost2022 G
FBXL13     AU4152303chr7:
102673212-102673212
CTintronicDe novo--Trost2022 G
Yuen2017 G
FBXL13     MSSNG00221-003chr7:
102704992-102704992
TCintronicDe novo--Trost2022 G
FBXL13     MSSNG00359-003chr7:
102680862-102680862
AGintronicDe novo--Trost2022 G
FBXL13     REACH000065chr7:
102693392-102693392
CTintronicDe novo--Trost2022 G
FBXL13     AU2687301chr7:
102662244-102662244
CAintronicDe novo--Trost2022 G
FBXL13     MSSNG00168-003chr7:
102663409-102663413
TAAACTintronicDe novo--Trost2022 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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