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Results for "NOTCH1"

Variant Events: 36

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     PN400137chr9:
139405111-139405111		GAexonicUnknownnonsynonymous SNVNM_017617c.C2734Tp.R912W18.230.0019Leblond2019 E
NOTCH1     1-0147-003chr9:
139416750-139416754		TCTTCTintronicDe novo--Trost2022 G
NOTCH1     SJD_46.3chr9:
139422837-139422837		GAintronicDe novo--Trost2022 G
NOTCH1     SSC05467chr9:
139402449-139402449		GAexonicDe novosynonymous SNVNM_017617c.C3468Tp.N1156N-5.893E-5Trost2022 G
NOTCH1     SP0088631chr9:
139409097-139409097		CTexonicDe novononsynonymous SNVNM_017617c.G2072Ap.G691D19.48-Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     AU3808304chr9:
139407288-139407288		CTintronicDe novo--Trost2022 G
Yuen2017 G
NOTCH1     PN400480chr9:
139401261-139401261		CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     PN400565chr9:
139401261-139401261		CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     SP0041550chr9:
139438535-139438535		GCexonicDe novosynonymous SNVNM_017617c.C81Gp.P27P--Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     SP0073087chr9:
139413101-139413101		GTexonicDe novosynonymous SNVNM_017617c.C1041Ap.G347G--Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     SP0028357chr9:
139408035-139408035		CTintronicDe novo-8.835E-6Fu2022 E
Trost2022 G
NOTCH1     SP0100919chr9:
139401130-139401130		TTGCCCCACACintronicDe novo--Fu2022 E
NOTCH1     SP0061231chr9:
139418408-139418408		GAexonicDe novononsynonymous SNVNM_017617c.C164Tp.P55L12.53-Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     SP0064457chr9:
139391169-139391169		GCexonicDe novononsynonymous SNVNM_017617c.C7022Gp.S2341C3.491-Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     AU017703chr9:
139406562-139406562		AGintronicDe novo--Trost2022 G
Yuen2017 G
NOTCH1     SP0038794chr9:
139399797-139399797		GAexonicDe novosynonymous SNVNM_017617c.C4551Tp.D1517D-1.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     SP0002928chr9:
139393628-139393628		GAexonicDe novosynonymous SNVNM_017617c.C6018Tp.A2006A-1.671E-5Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     SSC08665chr9:
139396487-139396487		CTexonicDe novostopgainNM_017617c.G5438Ap.W1813X46.0-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
NOTCH1     PN400350chr9:
139401261-139401261		CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     SSC02462chr9:
139390959-139390959		GAexonicDe novononsynonymous SNVNM_017617c.C7232Tp.P2411L1.913-Fu2022 E
Lim2017 E
Trost2022 G
NOTCH1     PN400182chr9:
139401261-139401261		CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     PN400118chr9:
139401261-139401261		CTexonicUnknownnonsynonymous SNVNM_017617c.G3808Ap.E1270K22.81.983E-5Leblond2019 E
NOTCH1     AU3874301chr9:
139416866-139416866		CGintronicDe novo--Trost2022 G
Yuen2017 G
NOTCH1     SP0050025chr9:
139391880-139391880		CTexonicDe novononsynonymous SNVNM_017617c.G6311Ap.R2104H23.5-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH1     13658_p1chr9:
139412361-139412361		CTexonicDe novosynonymous SNVNM_017617c.G1284Ap.K428K--Fu2022 E
NOTCH1     14411.p1chr9:
139394999-139394999		CGintronic--Zhou2022 GE
NOTCH1     13658.p1chr9:
139412361-139412361		CTexonicDe novosynonymous SNVNM_017617c.G1284Ap.K428K--Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NOTCH1     SP0088631chr9:
139418335-139418335		GAexonicDe novosynonymous SNVNM_017617c.C237Tp.R79R--Trost2022 G
Zhou2022 GE
NOTCH1     11097.p1chr9:
139390959-139390959		GAexonicMosaic, De novononsynonymous SNVNM_017617c.C7232Tp.P2411L1.913-Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
NOTCH1     13344.p1chr9:
139396487-139396487		CTexonicDe novostopgainNM_017617c.G5438Ap.W1813X46.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
NOTCH1     12777.p1chr9:
139402449-139402449		GAexonicDe novosynonymous SNVNM_017617c.C3468Tp.N1156N-5.893E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
NOTCH1     PN400213chr9:
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-5Trost2022 G
Yuen2017 G
Zhou2022 GE
NOTCH1     1-0155-003chr9:
139415391-139415391		GAintronicDe novo--Trost2022 G
Yuen2017 G
NOTCH1     PN400366chr9:
139405111-139405111		GAexonicUnknownnonsynonymous SNVNM_017617c.C2734Tp.R912W18.230.0019Leblond2019 E
NOTCH1     Wang2023:689chr9:
139396886-139396886		GAexonicDe novononsynonymous SNVNM_017617c.C5222Tp.A1741V6.5341.18E-5Wang2023 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
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