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Results for "AP3B2"

Variant Events: 6

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
AP3B2     AU2075302chr15:
83362497-83362497
GCintronicDe novo--Yuen2017 G
AP3B2     11255.p1chr15:
83357565-83357567
CATCexonicMaternalframeshift deletionNM_001278512
NM_004644
c.281_282del
c.281_282del
p.Y94fs
p.Y94fs
--O’Roak2012a T
AP3B2     1-0439-003chr15:
83348481-83348481
CGexonicDe novononsynonymous SNVNM_001278511
NM_001278512
NM_004644
c.G1086C
c.G1182C
c.G1182C
p.K362N
p.K394N
p.K394N
24.7-Yuen2016 G
Yuen2017 G
AP3B2     Lim2017:5335chr15:
83346497-83346497
CTexonicDe novononsynonymous SNVNM_001278511
NM_001278512
NM_004644
c.G1208A
c.G1304A
c.G1304A
p.R403H
p.R435H
p.R435H
34.01.051E-5Lim2017 E
AP3B2     1-0358-003chr15:
83367845-83367845
CTintronicDe novo--Yuen2017 G
AP3B2     11224.p1chr15:
83346497-83346497
CTexonicDe novononsynonymous SNVNM_001278511
NM_001278512
NM_004644
c.G1208A
c.G1304A
c.G1304A
p.R403H
p.R435H
p.R435H
34.01.051E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Source Variant Information

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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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