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Results for "ADD3"

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
ADD3     AU066403chr10:
111886326-111886326
ACintronicDe novo--Yuen2017 G
ADD3     AU2437302chr10:
111960330-111960330
GTintergenicDe novo--Yuen2017 G
ADD3     7-0149-003chr10:
111871229-111871229
CTintronicDe novo--Yuen2017 G
ADD3     2-0244-003chr10:
111833191-111833191
TGintronicDe novo--Yuen2017 G
ADD3     AU047703chr10:
111948855-111948855
TAintergenicDe novo--Yuen2017 G
ADD3     1-0520-003chr10:
111840696-111840696
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ADD3     14479.p1chr10:
111872668-111872668
CAexonicDe novononsynonymous SNVNM_001121
NM_016824
NM_019903
c.C329A
c.C329A
c.C329A
p.P110H
p.P110H
p.P110H
25.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ADD3     2-1451-003chr10:
111800687-111800687
GGCTintronicDe novo--Yuen2017 G
ADD3     SSC11954chr10:
111872668-111872668
CAexonicDe novononsynonymous SNVNM_001121
NM_016824
NM_019903
c.C329A
c.C329A
c.C329A
p.P110H
p.P110H
p.P110H
25.8-Lim2017 E
ADD3     2-1508-003chr10:
111918666-111918666
ATintergenicDe novo--Yuen2017 G
ADD3     2-1296-003chr10:
111871855-111871855
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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