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Results for "UNC13B"

Variant Events: 15

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
UNC13B     5-0025-004chr9:
35361010-35361010
GAintronicDe novo--Yuen2017 G
UNC13B     Lim2017:70275chr9:
35231139-35231139
CGexonicDe novosynonymous SNVNM_006377c.C75Gp.T25T--Lim2017 E
UNC13B     2-1220-003chr9:
35212164-35212164
CTintronicDe novo--Yuen2016 G
Yuen2017 G
UNC13B     AU0039303chr9:
35182713-35182713
CCTTTintronicDe novo--Yuen2017 G
UNC13B     1-0347-003chr9:
35261535-35261535
GAintronicDe novo--Yuen2017 G
UNC13B     A7chr9:
35308739-35308739
TGintronicDe novo--Wu2018 G
UNC13B     13649.p1chr9:
35212336-35212336
GAintronicDe novo--Turner2016 G
UNC13B     AU3885305chr9:
35252788-35252788
GAintronicDe novo--Yuen2017 G
UNC13B     1265011chr9:
35237726-35237726
AGexonicDe novosynonymous SNVNM_006377c.A297Gp.L99L--Satterstrom2020 E
UNC13B     2-0298-003chr9:
35328686-35328686
TCintronicDe novo--Yuen2017 G
UNC13B     2-1254-003chr9:
35365054-35365054
TCintronicDe novo--Yuen2016 G
Yuen2017 G
UNC13B     A22chr9:
35168624-35168624
TTTintronicDe novo--Wu2018 G
UNC13B     NDAR_INVJG302HJQ_wes1chr9:
35382420-35382420
GAexonicDe novosynonymous SNVNM_006377c.G2475Ap.L825L--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
UNC13B     12310.p1chr9:
35231139-35231139
CGexonicDe novosynonymous SNVNM_006377c.C75Gp.T25T--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
UNC13B     13645.p1chr9:
35381599-35381599
GCexonicMosaic, De novononsynonymous SNVNM_006377c.G2291Cp.R764P17.45-Ji2016 E
Krumm2015 E
Krupp2017 E
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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