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Results for "JAG1"

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
JAG1     14585.p1chr20:
10632972-10632972
CTintronicMosaic Mat.--Dou2017 E
JAG1     2-1295-003chr20:
10647559-10647559
CAintronicDe novo--Yuen2016 G
Yuen2017 G
JAG1     Lim2017:37110chr20:
10653553-10653553
CTexonicDe novosynonymous SNVNM_000214c.G183Ap.P61P--Lim2017 E
JAG1     2-1138-003chr20:
10690115-10690115
CTintergenicDe novo--Yuen2017 G
JAG1     3-0438-000chr20:
10709020-10709020
CGintergenicDe novo--Yuen2016 G
JAG1     AU3862305chr20:
10620224-10620224
GAexonicDe novosynonymous SNVNM_000214c.C3579Tp.H1193H--Trost2022 G
Yuen2017 G
Zhou2022 GE
JAG1     304-09-111628chr20:
10622111-10622111
TGexonicDe novosynonymous SNVNM_000214c.A2913Cp.S971S--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
JAG1     More2023:19chr20:
10621462-10621462
TGexonicInheritednonsynonymous SNVNM_000214c.A3168Cp.R1056S19.961.0E-4More2023 G
JAG1     37110chr20:
10653553-10653553
CTexonicDe novosynonymous SNVNM_000214c.G183Ap.P61P--Fu2022 E
Trost2022 G
JAG1     5-5123-004chr20:
10641503-10641503
CTintronicDe novo--Trost2022 G
JAG1     14652.p1chr20:
10653553-10653553
CTexonicDe novosynonymous SNVNM_000214c.G183Ap.P61P--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
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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