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Results for "AP2B1"

Variant Events: 11

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
AP2B1     12594.p1chr17:
33998753-33998753
CCTTTintronicDe novo--Satterstrom2020 E
AP2B1     AU3721301chr17:
34043077-34043077
GAintronicDe novo--Yuen2017 G
AP2B1     1-0067-005chr17:
33949548-33949548
CCTTintronicDe novo--Yuen2017 G
AP2B1     1-0294-003chr17:
33928093-33928093
AGintronicDe novo--Yuen2016 G
Yuen2017 G
AP2B1     11824.p1chr17:
33998754-33998754
TCintronicDe novo-1.0E-4Satterstrom2020 E
AP2B1     2-0307-003chr17:
34012727-34012727
TGintronicDe novo--Yuen2017 G
AP2B1     AU3646301chr17:
33961047-33961047
TGintronicDe novo--Yuen2017 G
AP2B1     2-0018-004chr17:
34034768-34034769
ACAintronicDe novo--Yuen2017 G
AP2B1     2-0238-003chr17:
33985856-33985856
GAintronicDe novo--Yuen2017 G
AP2B1     Codina-Sola2015:ASD_34chr17:
33966782-33966782
AGintronicMaternal-3.343E-5Codina-Sola2015 E
AP2B1     AU2019302chr17:
33959287-33959287
GAintronicDe 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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