Home
Publications
Statistics
Downloads
About
Documentation
Gene Symbol:
Submit
or
Region:
Submit
or
Sample:
Exact
Submit
Home
Search by gene
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
2-0145-004
chr2:
112927400-112927400
C
T
intronic
De novo
-
-
Yuen2017
G
FBLN7
AU024105
chr2:
112924187-112924187
A
G
intronic
De novo
-
-
Yuen2017
G
FBLN7
AU3051303
chr2:
112937963-112937963
T
A
intronic
De novo
-
-
Yuen2017
G
FBLN7
09C90833
chr2:
112922678-112922678
G
A
exonic
De novo
synonymous SNV
NM_001128165
NM_153214
c.G336A
c.G336A
p.R112R
p.R112R
-
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Neale2012
E
Satterstrom2020
E
FBLN7
AU3051303
chr2:
112938008-112938008
T
C
intronic
De novo
-
-
Yuen2017
G
FBLN7
AU073003
chr2:
112972000-112972000
T
C
intergenic
De novo
-
-
Yuen2017
G
FBLN7
AU3051303
chr2:
112939078-112939078
G
C
intronic
De novo
-
-
Yuen2017
G
FBLN7
iHART2480
chr2:
112896308-112896308
G
C
splicing
Paternal
splicing
16.95
-
Ruzzo2019
G
FBLN7
iHART2479
chr2:
112896308-112896308
G
C
splicing
Paternal
splicing
16.95
-
Ruzzo2019
G
Source Variant Information
?
, -
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 notes
View
More