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Results for "APBA1"

Variant Events: 18

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
APBA1     1-0357-003chr9:
72249455-72249455
TGintronicDe novo--Yuen2017 G
APBA1     20-0427226-19chr9:
72131916-72131916
GCexonicDe novononsynonymous SNVNM_001163c.C211Gp.R71G8.58-Satterstrom2020 E
APBA1     1-0757-003chr9:
72241334-72241334
CTintronicDe novo--Yuen2017 G
APBA1     AU4234303chr9:
72178513-72178519
TAGAGAGTAGAGintronicDe novo--Yuen2017 G
APBA1     11333.p1chr9:
72047457-72047457
CTexonicDe novononsynonymous SNVNM_001163c.G2437Ap.G813R34.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
APBA1     11558.p1chr9:
72131524-72131524
TAexonicDe novosynonymous SNVNM_001163c.A603Tp.I201I--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
APBA1     AU2075301chr9:
72319947-72319947
AGintergenicDe novo--Yuen2017 G
APBA1     2-1506-003chr9:
72294314-72294327
CCTCTCTCTCTCTCCCTCTCTCTCTCintergenicDe novo--Yuen2017 G
APBA1     5-0099-003chr9:
72154337-72154337
TCintronicDe novo--Yuen2017 G
APBA1     1-0976-003chr9:
72068061-72068064
CTTTCTTintronicDe novo--Yuen2017 G
APBA1     SSC01947chr9:
72131524-72131524
TAexonicDe novosynonymous SNVNM_001163c.A603Tp.I201I--Lim2017 E
APBA1     1-0560-003chr9:
72219189-72219201
GGCACGCATGCACGGCACintronicDe novo--Yuen2017 G
APBA1     2-0197-004chr9:
72080561-72080561
GAintronicDe novo--Yuen2017 G
APBA1     SSC00314chr9:
72047457-72047457
CTexonicDe novononsynonymous SNVNM_001163c.G2437Ap.G813R34.0-Lim2017 E
APBA1     12382.p1chr9:
72046230-72046230
CTUTR3De novo-6.102E-5Krumm2015 E
Satterstrom2020 E
APBA1     AU4435301chr9:
72070016-72070016
CGintronicDe novo--Yuen2017 G
APBA1     AU039304chr9:
72314165-72314165
CTintergenicDe novo--Yuen2017 G
APBA1     2-1277-003chr9:
72078237-72078237
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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