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Results for "NOTCH2NL"

Variant Events: 50

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
NOTCH2NL     PN400209chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400289chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400359chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400543chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400367chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400114chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400125chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400104chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400531chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400538chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400118chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400499chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400171chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400505chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400266chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400375chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400581chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400412chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400544chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400568chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400349chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400203chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     11910.p1chr1:
145281680-145281680		AGexonicDe novononsynonymous SNVNM_203458c.A610Gp.T204A12.986.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
NOTCH2NL     PN400582chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400506chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400261chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400297chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400484chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400554chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400326chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400533chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400129chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400507chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400415chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400564chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400312chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400380chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400205chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400287chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400490chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400534chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400407chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400179chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400542chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400530chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400194chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400548chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400170chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400523chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 E
NOTCH2NL     PN400332chr1:
145273366-145273366		CTexonicUnknownstopgainNM_203458c.C220Tp.R74X23.10.0873Leblond2019 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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