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Results for "NOTCH3"

Variant Events: 16

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
NOTCH3     2-1085-003chr19:
15278100-15278100
GCexonicDe novononsynonymous SNVNM_000435c.C5322Gp.D1774E1.353-Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
NOTCH3     REACH000198chr19:
15275376-15275376
CAintronicDe novo--Trost2022 G
NOTCH3     1-0142-005chr19:
15287862-15287864
AAGCACintronicDe novo--Trost2022 G
NOTCH3     2-1567-004chr19:
15295323-15295323
CGintronicDe novo--Trost2022 G
Yuen2017 G
NOTCH3     3-0446-000chr19:
15272169-15272170
GCGexonicMaternalframeshift deletionNM_000435c.6269delGp.G2090fs--Chan2022 G
NOTCH3     JASD_Fam0030chr19:
15290891-15290891
TCexonicDe novononsynonymous SNVNM_000435c.A3319Gp.M1107V3.082-Takata2018 E
NOTCH3     5330chr19:
15290235-15290235
CGexonicDe novononsynonymous SNVNM_000435c.G3400Cp.G1134R22.8-Trost2022 G
NOTCH3     1-0479-006chr19:
15283787-15283787
CTintronicDe novo--Yuen2017 G
NOTCH3     1-0142-005chr19:
15287870-15287870
GAintronicDe novo--Trost2022 G
NOTCH3     1-0142-005chr19:
15287875-15287877
TCCCCTintronicDe novo--Trost2022 G
NOTCH3     11193.p1chr19:
15290235-15290235
CGexonicMosaic, De novononsynonymous SNVNM_000435c.G3400Cp.G1134R22.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Zhou2022 GE
NOTCH3     SP0094077chr19:
15271601-15271601
TCexonicDe novononsynonymous SNVNM_000435c.A6838Gp.M2280V4.8641.658E-5Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH3     SP0143361chr19:
15302993-15302993
GAexonicDe novononsynonymous SNVNM_000435c.C457Tp.R153C20.9-Fu2022 E
Trost2022 G
Zhou2022 GE
NOTCH3     AU062204chr19:
15304404-15304404
TGintronicDe novo--Trost2022 G
Yuen2017 G
NOTCH3     SP0105377chr19:
15278262-15278262
TCintronicDe novo--Fu2022 E
Trost2022 G
NOTCH3     AU006Achr19:
15276256-15276256
GAexonicDe novononsynonymous SNVNM_000435c.C5738Tp.A1913V26.43.308E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 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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