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Results for "UNC79"

Variant Events: 20

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
UNC79     1-0257-003chr14:
94147039-94147039
CTintronicDe novo--Yuen2017 G
UNC79     2-1475-003chr14:
94160998-94160998
AGintronicDe novo--Yuen2017 G
UNC79     14530.p1chr14:
94088799-94088800
ACAexonicDe novostopgainNM_020818c.4690delCp.L1564X--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
UNC79     25.s1chr14:
94008885-94008885
GAexonicDe novostopgainNM_020818c.G1067Ap.W356X39.0-An2014 E
UNC79     14542.p1chr14:
94153024-94153024
CGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
UNC79     1-0218-004chr14:
93822771-93822771
CGintronicDe novo--Yuen2017 G
UNC79     5-0026-003chr14:
93926117-93926117
TAintronicDe novo--Yuen2017 G
UNC79     2-1381-003chr14:
94160761-94160761
ATintronicDe novo--Yuen2017 G
UNC79     14695.p1chr14:
94120380-94120380
CTintronicDe novo--Krumm2015 E
Satterstrom2020 E
UNC79     iHART3145chr14:
94088960-94088960
CCAGexonicMaternalframeshift insertionNM_020818c.4850_4851insAGp.A1617fs--Ruzzo2019 G
UNC79     iHART3144chr14:
94088960-94088960
CCAGexonicMaternalframeshift insertionNM_020818c.4850_4851insAGp.A1617fs--Ruzzo2019 G
UNC79     2-1154-003chr14:
94173820-94173820
CTdownstreamDe novo--Yuen2016 G
Yuen2017 G
UNC79     08C73486chr14:
94107579-94107579
GAexonicDe novosynonymous SNVNM_020818c.G5475Ap.T1825T-8.806E-6Satterstrom2020 E
UNC79     2-0318-004chr14:
93803298-93803298
CGintronicDe novo--Yuen2017 G
UNC79     EGAN00001101042chr14:
93934056-93934056
GAUTR5De novo29.18.125E-5Satterstrom2020 E
UNC79     14547.p1chr14:
94129046-94129046
CTexonicMosaicstopgainNM_020818c.C6208Tp.R2070X47.0-Krupp2017 E
UNC79     2-0171-003chr14:
93944971-93944971
CGintronicDe novo--Yuen2017 G
UNC79     1-0604-003chr14:
93944944-93944963
AAATAATAATAATAATAATAAAATAATAATAATAATAintronicDe novo--Yuen2017 G
UNC79     AU070007chr14:
93872630-93872630
TGintronicDe novo--Yuen2017 G
UNC79     Viggiano2022:105.3chr14:
94088270-94088270
ATexonicMaternalnonsynonymous SNVNM_020818c.A4160Tp.N1387I9.235-Viggiano2022 GT
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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