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Results for "UNC13A"

Variant Events: 13

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
UNC13A     NDAR_INVXP232UMQ_wes1chr19:
17743591-17743591
GTexonicDe novononsynonymous SNVNM_001080421c.C3428Ap.A1143E17.14-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
UNC13A     13757.p1chr19:
17738631-17738631
TGintronicDe novo-3.0E-4Satterstrom2020 E
UNC13A     11469.p1chr19:
17762911-17762912
CTCintronicDe novo--Wilfert2021 G
UNC13A     7-0024-003chr19:
17755006-17755006
GAintronicDe novo--Yuen2017 G
UNC13A     TAS_F0236Ychr19:
17728585-17728585
CTexonicDe novononsynonymous SNVNM_001080421c.G4484Ap.R1495H12.112.484E-5Satterstrom2020 E
UNC13A     09C99813chr19:
17747013-17747013
GAintronicDe novo--Satterstrom2020 E
UNC13A     AU003405chr19:
17822085-17822085
ACintergenicDe novo--Yuen2017 G
UNC13A     1-0531-003chr19:
17809740-17809740
TCintergenicDe novo--Yuen2017 G
UNC13A     PN400100chr19:
17737533-17737533
CTexonicUnknownnonsynonymous SNVNM_001080421c.G3982Ap.G1328S23.9-Leblond2019 E
UNC13A     PN400498chr19:
17752254-17752254
CTexonicUnknownnonsynonymous SNVNM_001080421c.G2584Ap.V862M20.7-Leblond2019 E
UNC13A     2-1182-003chr19:
17747013-17747013
GAintronicDe novo--Yuen2016 G
Yuen2017 G
UNC13A     13676.p1chr19:
17720779-17720779
CTexonicMosaicstopgainNM_001080421c.G4781Ap.W1594X43.0-Krupp2017 E
UNC13A     AU075210chr19:
17782299-17782299
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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