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Results for "FOXI2"

Variant Events: 13

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
FOXI2     AU4212303chr10:
129658793-129658793
GAintergenicDe novo--Yuen2017 G
FOXI2     AU3900301chr10:
129601721-129601721
GAintergenicDe novo--Yuen2017 G
FOXI2     AU012804chr10:
129643629-129643629
GAintergenicDe novo--Yuen2017 G
FOXI2     2-0242-004chr10:
129546005-129546005
GAintergenicDe novo--Yuen2017 G
FOXI2     AU2117302chr10:
129546473-129546473
GCintergenicDe novo--Yuen2017 G
FOXI2     1-0265-004chr10:
129565807-129565807
TCintergenicDe novo--Yuen2017 G
FOXI2     1-0265-003chr10:
129565807-129565807
TCintergenicDe novo--Yuen2017 G
FOXI2     AU4479301chr10:
129585724-129585724
CTintergenicDe novo--Yuen2017 G
FOXI2     13825.p1chr10:
129585839-129585839
GAintergenicDe novo--Wilfert2021 G
FOXI2     iHART2765chr10:
129535605-129535605
AACexonicPaternalframeshift insertionNM_207426c.69dupCp.H23fs--Ruzzo2019 G
FOXI2     iHART2764chr10:
129535605-129535605
AACexonicPaternalframeshift insertionNM_207426c.69dupCp.H23fs--Ruzzo2019 G
FOXI2     iHART2763chr10:
129535605-129535605
AACexonicPaternalframeshift insertionNM_207426c.69dupCp.H23fs--Ruzzo2019 G
FOXI2     1-0300-004chr10:
129606149-129606149
TCintergenicDe 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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