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Results for "FIP1L1"

Variant Events: 8

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
FIP1L1     2-1194-003chr4:
54247203-54247203
TGintronicDe novo--Yuen2017 G
FIP1L1     1-0629-003chr4:
54264918-54264918
GCintronicDe novo--Yuen2017 G
FIP1L1     2-1736-003chr4:
54276154-54276154
GAintronicDe novo--Yuen2017 G
FIP1L1     1-0045-003chr4:
54302591-54302591
GAintronicDe novo--Yuen2017 G
FIP1L1     7-0188-003chr4:
54275963-54275963
GCintronicDe novo--Yuen2017 G
FIP1L1     1588-22326chr4:
54257236-54257236
GAexonicnonsynonymous SNVNM_001134937
NM_001134938
NM_030917
c.G521A
c.G521A
c.G566A
p.C174Y
p.C174Y
p.C189Y
21.3-Callaghan2019 G
FIP1L1     1-0513-003chr4:
54244637-54244637
AAAGintronicDe novo--Yuen2016 G
FIP1L1     AU3506303chr4:
54304151-54304151
GAintronicDe 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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