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Results for "POTEE"

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
POTEE     AU2248301chr2:
131982801-131982801
GTintronicDe novo--Yuen2017 G
POTEE     1-0558-003chr2:
132011222-132011222
CTintronicDe novo--Yuen2017 G
POTEE     AU2793303chr2:
131986998-131986998
ACintronicDe novo--Yuen2017 G
POTEE     AU4122301chr2:
132030088-132030088
GAintergenicDe novo--Yuen2017 G
POTEE     NDAR_INVTJ060WMN_wes1chr2:
132021818-132021818
GAexonicDe novosynonymous SNVNM_001083538c.G2790Ap.A930A-2.0E-4Lim2017 E
POTEE     AU4122301chr2:
132030113-132030113
GTintergenicDe novo--Yuen2017 G
POTEE     2-1155-003chr2:
132029887-132029887
GCintergenicDe novo--Yuen2017 G
POTEE     1-0627-007chr2:
132021542-132021542
CTexonicDe novosynonymous SNVNM_001083538c.C2514Tp.A838A-2.496E-5Yuen2017 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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