Home
Publications
Statistics
Downloads
About
Documentation
Gene Symbol:
Submit
or
Region:
Submit
or
Sample:
Exact
Submit
Home
Search by gene
Results for "FSIP2"
Variant Events: 16
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
FSIP2
653-04-102262
chr2:
186696658-186696658
C
T
intronic
De novo
-
-
Satterstrom2020
E
FSIP2
iHART1090
chr2:
186670014-186670015
TA
T
exonic
Paternal
frameshift deletion
NM_173651
c.16249delA
p.I5417fs
-
2.0E-4
Ruzzo2019
G
FSIP2
iHART2769
chr2:
186665045-186665050
ATAAGT
A
exonic
Paternal
frameshift deletion
NM_173651
c.11280_11284del
p.N3760fs
-
7.065E-5
Ruzzo2019
G
FSIP2
2-0033-003
chr2:
186868663-186868664
AG
A
intergenic
De novo
-
-
Yuen2017
G
FSIP2
iHART3090
chr2:
186671089-186671089
G
T
exonic
Paternal
stopgain
NM_173651
c.G17323T
p.E5775X
55.0
-
Ruzzo2019
G
FSIP2
1-0826-004
chr2:
186885699-186885699
A
G
intergenic
De novo
-
-
Yuen2017
G
FSIP2
2-1137-003
chr2:
186709764-186709764
C
T
intergenic
De novo
-
-
Yuen2017
G
FSIP2
2-0264-004
chr2:
186762755-186762755
T
C
intergenic
De novo
-
-
Yuen2017
G
FSIP2
12598.p1
chr2:
186625767-186625768
GA
G
exonic
De novo
frameshift deletion
NM_173651
c.1399delA
p.K467fs
-
-
Satterstrom2020
E
Wilfert2021
G
FSIP2
AU061104
chr2:
186876600-186876600
C
T
intergenic
De novo
-
-
Yuen2017
G
FSIP2
Cukier2014:7606
chr2:
186654867-186654867
G
C
exonic
Unknown
nonsynonymous SNV
NM_173651
c.G3271C
p.D1091H
12.61
0.1802
Cukier2014
E
FSIP2
2-1577-003
chr2:
186775378-186775378
T
C
intergenic
De novo
-
-
Yuen2017
G
FSIP2
2-0309-004
chr2:
186844345-186844345
C
T
intergenic
De novo
-
-
Yuen2017
G
FSIP2
A26
chr2:
186695166-186695166
G
T
intronic
De novo
-
-
Wu2018
G
FSIP2
14479.p1
chr2:
186654444-186654444
A
G
exonic
De novo
nonsynonymous SNV
NM_173651
c.A2848G
p.I950V
-
-
Satterstrom2020
E
FSIP2
AU3517301
chr2:
186645621-186645621
A
G
intronic
De novo
-
-
Yuen2017
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