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Results for "FSIP1"

Variant Events: 12

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
FSIP1     3-0391-000chr15:
40066885-40066885
CTintronicDe novo--Yuen2017 G
FSIP1     NDAR_INVGW395LFN_wes1chr15:
39893167-39893167
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
FSIP1     AU3861303chr15:
39904656-39904656
TCintronicDe novo--Yuen2017 G
FSIP1     AU2569301chr15:
39935397-39935398
GAGintronicDe novo--Yuen2017 G
FSIP1     iHART3201chr15:
40056058-40056059
ATAexonicPaternalframeshift deletionNM_152597c.522delAp.K174fs-2.517E-5Ruzzo2019 G
FSIP1     2-1268-003chr15:
39963660-39963660
TCintronicDe novo--Yuen2016 G
Yuen2017 G
FSIP1     AU1987301chr15:
40011709-40011709
AGintronicDe novo--Yuen2017 G
FSIP1     iHART3050chr15:
39909979-39909979
TTCACexonicMaternalstopgainNM_152597c.1655_1656insGTGp.E552delinsEX--Ruzzo2019 G
FSIP1     2-1129-003chr15:
40030406-40030406
CTintronicDe novo--Yuen2016 G
Yuen2017 G
FSIP1     2-1718-003chr15:
40000184-40000184
TCintronicDe novo--Yuen2017 G
FSIP1     2-1417-003chr15:
40033848-40033848
TCintronicDe novo--Yuen2017 G
FSIP1     7-0055-003chr15:
39926442-39926445
TCCCTCCCCCintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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