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Results for "FBLIM1"

Variant Events: 6

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
FBLIM1     SSC03715chr1:
16101147-16101147
TGexonicDe novononsynonymous SNVNM_001024216
NM_001024215
NM_017556
c.T455G
c.T746G
c.T746G
p.V152G
p.V249G
p.V249G
11.857.51E-5Lim2017 E
FBLIM1     iHART2956chr1:
16101422-16101432
TACAGGGCTGGTexonicPaternalframeshift deletionNM_001024215c.1022_1031delp.Y341fs-5.726E-5Ruzzo2019 G
FBLIM1     iHART2958chr1:
16101422-16101432
TACAGGGCTGGTexonicPaternalframeshift deletionNM_001024215c.1022_1031delp.Y341fs-5.726E-5Ruzzo2019 G
FBLIM1     DEASD_0241_001chr1:
16096936-16096936
CTexonicDe novononsynonymous SNVNM_001024216
NM_001024215
NM_017556
c.C283T
c.C574T
c.C574T
p.P95S
p.P192S
p.P192S
19.898.258E-6DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
FBLIM1     iHART2442chr1:
16101479-16101479
CTexonicMaternalstopgainNM_001024215c.C1078Tp.R360X13.044.0E-4Ruzzo2019 G
FBLIM1     1-0385-003chr1:
16088502-16088502
GAintronicDe 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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