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Results for "AP3D1"

Variant Events: 10

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
AP3D1     13171.p1chr19:
2135041-2135041
CTintronicDe novo--Turner2016 G
AP3D1     12793.p1chr19:
2135492-2135492
GAintronicDe novo--Turner2016 G
AP3D1     2-1378-003chr19:
2132764-2132764
GAintronicDe novo--Yuen2017 G
AP3D1     13171.p1chr19:
2135034-2135034
TCintronicDe novo--Turner2016 G
AP3D1     SSC06985chr19:
2121195-2121195
TCexonicDe novononsynonymous SNVNM_001261826
NM_003938
c.A1217G
c.A1217G
p.Q406R
p.Q406R
18.02-Lim2017 E
AP3D1     13322.p1chr19:
2118556-2118556
AAGintronicDe novo--Satterstrom2020 E
AP3D1     JASD_Fam0041chr19:
2137725-2137725
CAsplicingDe novosplicing20.1-Takata2018 E
AP3D1     13187.p1chr19:
2121195-2121195
TCexonicDe novononsynonymous SNVNM_001261826
NM_003938
c.A1217G
c.A1217G
p.Q406R
p.Q406R
18.02-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
AP3D1     3D263chr19:
2130490-2130490
AGexonicDe novononsynonymous SNVNM_001261826
NM_003938
c.T509C
c.T509C
p.M170T
p.M170T
15.51.659E-5Satterstrom2020 E
AP3D1     AU4188302chr19:
2144514-2144514
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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