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Results for "FBLN7"

Variant Events: 9

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
FBLN7     09C90833chr2:
112922678-112922678
GAexonicDe novosynonymous SNVNM_001128165
NM_153214
c.G336A
c.G336A
p.R112R
p.R112R
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
FBLN7     AU3051303chr2:
112938008-112938008
TCintronicDe novo--Yuen2017 G
FBLN7     AU073003chr2:
112972000-112972000
TCintergenicDe novo--Yuen2017 G
FBLN7     AU3051303chr2:
112939078-112939078
GCintronicDe novo--Yuen2017 G
FBLN7     2-0145-004chr2:
112927400-112927400
CTintronicDe novo--Yuen2017 G
FBLN7     AU024105chr2:
112924187-112924187
AGintronicDe novo--Yuen2017 G
FBLN7     AU3051303chr2:
112937963-112937963
TAintronicDe novo--Yuen2017 G
FBLN7     iHART2480chr2:
112896308-112896308
GCsplicingPaternalsplicing16.95-Ruzzo2019 G
FBLN7     iHART2479chr2:
112896308-112896308
GCsplicingPaternalsplicing16.95-Ruzzo2019 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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