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Results for "NOTCH1"

Variant Events: 19

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
NOTCH1     PN400118chr9:
139401261-139401261
CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     AU3874301chr9:
139416866-139416866
CGintronicDe novo--Yuen2017 G
NOTCH1     PN400137chr9:
139405111-139405111
GAexonicUnknownnonsynonymous SNVNM_017617c.C2734Tp.R912W18.230.0019Leblond2019 E
NOTCH1     AU3808304chr9:
139407288-139407288
CTintronicDe novo--Yuen2017 G
NOTCH1     PN400480chr9:
139401261-139401261
CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     13658.p1chr9:
139412361-139412361
CTexonicDe novosynonymous SNVNM_017617c.G1284Ap.K428K--Krumm2015 E
Lim2017 E
Satterstrom2020 E
NOTCH1     PN400565chr9:
139401261-139401261
CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     11097.p1chr9:
139390959-139390959
GAexonicMosaic, De novononsynonymous SNVNM_017617c.C7232Tp.P2411L1.913-Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
NOTCH1     13344.p1chr9:
139396487-139396487
CTexonicDe novostopgainNM_017617c.G5438Ap.W1813X46.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
NOTCH1     12777.p1chr9:
139402449-139402449
GAexonicDe novosynonymous SNVNM_017617c.C3468Tp.N1156N-5.893E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NOTCH1     AU017703chr9:
139406562-139406562
AGintronicDe novo--Yuen2017 G
NOTCH1     SSC08665chr9:
139396487-139396487
CTexonicDe novostopgainNM_017617c.G5438Ap.W1813X46.0-Lim2017 E
NOTCH1     PN400213chr9:
139401261-139401261
CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     PN400350chr9:
139401261-139401261
CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     7-0248-003chr9:
139411769-139411769
GAexonicDe novononsynonymous SNVNM_017617c.C1510Tp.R504C21.51.169E-5Yuen2017 G
NOTCH1     SSC02462chr9:
139390959-139390959
GAexonicDe novononsynonymous SNVNM_017617c.C7232Tp.P2411L1.913-Lim2017 E
NOTCH1     PN400182chr9:
139401261-139401261
CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     1-0155-003chr9:
139415391-139415391
GAintronicDe novo--Yuen2017 G
NOTCH1     PN400366chr9:
139405111-139405111
GAexonicUnknownnonsynonymous SNVNM_017617c.C2734Tp.R912W18.230.0019Leblond2019 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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