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Results for "IPO7"

Variant Events: 9

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
IPO7     AU2292302chr11:
9414205-9414208
TACATAintronicDe novo--Yuen2017 G
IPO7     AU2292301chr11:
9414205-9414208
TACATAintronicDe novo--Yuen2017 G
IPO7     1-0597-003chr11:
9439353-9439353
AGintronicDe novo--Yuen2017 G
IPO7     Bruno2021:XVIIchr11:
9446481-9446481
TCexonicDe novononsynonymous SNVNM_006391c.T1162Cp.S388P27.5-Bruno2021 E
IPO7     2-1366-003chr11:
9439687-9439687
AGintronicDe novo--Yuen2017 G
IPO7     2-0300-004chr11:
9439448-9439448
TCintronicDe novo--Yuen2017 G
IPO7     2-1366-004chr11:
9439687-9439687
AGintronicDe novo--Yuen2017 G
IPO7     21236-33440chr11:
9441980-9441980
AGexonicnonsynonymous SNVNM_006391c.A749Gp.D250G25.1-Callaghan2019 G
IPO7     1-0009-004chr11:
9407992-9407992
CTintronicDe 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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