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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     653-04-102262chr2:
186696658-186696658
CTintronicDe novo--Satterstrom2020 E
FSIP2     iHART1090chr2:
186670014-186670015
TATexonicPaternalframeshift deletionNM_173651c.16249delAp.I5417fs-2.0E-4Ruzzo2019 G
FSIP2     iHART2769chr2:
186665045-186665050
ATAAGTAexonicPaternalframeshift deletionNM_173651c.11280_11284delp.N3760fs-7.065E-5Ruzzo2019 G
FSIP2     2-0033-003chr2:
186868663-186868664
AGAintergenicDe novo--Yuen2017 G
FSIP2     iHART3090chr2:
186671089-186671089
GTexonicPaternalstopgainNM_173651c.G17323Tp.E5775X55.0-Ruzzo2019 G
FSIP2     1-0826-004chr2:
186885699-186885699
AGintergenicDe novo--Yuen2017 G
FSIP2     2-1137-003chr2:
186709764-186709764
CTintergenicDe novo--Yuen2017 G
FSIP2     2-0264-004chr2:
186762755-186762755
TCintergenicDe novo--Yuen2017 G
FSIP2     12598.p1chr2:
186625767-186625768
GAGexonicDe novoframeshift deletionNM_173651c.1399delAp.K467fs--Satterstrom2020 E
Wilfert2021 G
FSIP2     AU061104chr2:
186876600-186876600
CTintergenicDe novo--Yuen2017 G
FSIP2     Cukier2014:7606chr2:
186654867-186654867
GCexonicUnknownnonsynonymous SNVNM_173651c.G3271Cp.D1091H12.610.1802Cukier2014 E
FSIP2     2-1577-003chr2:
186775378-186775378
TCintergenicDe novo--Yuen2017 G
FSIP2     2-0309-004chr2:
186844345-186844345
CTintergenicDe novo--Yuen2017 G
FSIP2     A26chr2:
186695166-186695166
GTintronicDe novo--Wu2018 G
FSIP2     14479.p1chr2:
186654444-186654444
AGexonicDe novononsynonymous SNVNM_173651c.A2848Gp.I950V--Satterstrom2020 E
FSIP2     AU3517301chr2:
186645621-186645621
AGintronicDe 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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