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Results for "PJA2"

Variant Events: 17

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
PJA2     1-0971-003chr5:
108675856-108675856
GTintronicDe novo--Yuen2017 G
PJA2     1-0508-003chr5:
108935470-108935470
GAintergenicDe novo--Yuen2017 G
PJA2     AU031203chr5:
109008224-109008224
GAintergenicDe novo--Yuen2017 G
PJA2     AU3907302chr5:
108744723-108744723
CTintronicDe novo--Yuen2017 G
PJA2     2-1146-003chr5:
108947314-108947314
TAintergenicDe novo--Yuen2017 G
PJA2     1-0671-003chr5:
108805029-108805029
ATintergenicDe novo--Yuen2017 G
PJA2     AU030703chr5:
108954413-108954413
ACintergenicDe novo--Yuen2017 G
PJA2     AU1848302chr5:
108833074-108833077
CAAACAAAAintergenicDe novo--Yuen2017 G
PJA2     1-0488-003chr5:
109010224-109010224
ATintergenicDe novo--Yuen2017 G
PJA2     1-0447-003chr5:
108732640-108732640
CTintronicDe novo--Yuen2017 G
PJA2     2-1173-003chr5:
108775322-108775322
GAintergenicDe novo--Yuen2017 G
PJA2     2-1408-004chr5:
108971322-108971322
AGintergenicDe novo--Yuen2017 G
PJA2     SJD_49chr5:
108714917-108714917
TAexonicMaternalnonsynonymous SNVNM_014819c.A271Tp.S91C10.95-Toma2013 E
PJA2     2-1735-003chr5:
109008796-109008796
AGintergenicDe novo--Yuen2017 G
PJA2     3-0447-000chr5:
108888533-108888533
AGintergenicDe novo--Yuen2017 G
PJA2     1-0092-003chr5:
108879499-108879499
GAintergenicDe novo--Yuen2017 G
PJA2     1-0092-003chr5:
108702489-108702489
AGintronicDe 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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