or
or
Exact

Results for "NOTCH2"

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
NOTCH2     Shi2013:1chr1:
120459206-120459206
GAexonicInheritednonsynonymous SNVNM_024408c.C6139Tp.R2047W15.591.651E-5Shi2013 G
NOTCH2     PN400557chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     2-0704-003chr1:
120594473-120594473
TCintronicDe novo--Yuen2017 G
NOTCH2     AU4024303chr1:
120616986-120616986
GAintergenicDe novo--Yuen2017 G
NOTCH2     1-0969-003chr1:
120832048-120832048
TCintergenicDe novo--Yuen2017 G
NOTCH2     2-0704-003chr1:
120563823-120563823
GTintronicDe novo--Yuen2017 G
NOTCH2     2-1288-003chr1:
120611502-120611502
AGintronicDe novo--Yuen2017 G
NOTCH2     AU4199303chr1:
120676361-120676361
CAintergenicDe novo--Yuen2017 G
NOTCH2     AU3610302chr1:
120601899-120601899
CGintronicDe novo--Yuen2017 G
NOTCH2     AU3175302chr1:
120634880-120634880
CTintergenicDe novo--Yuen2017 G
NOTCH2     5-0138-003chr1:
120544753-120544753
GCintronicDe novo--Yuen2017 G
NOTCH2     7-0254-003chr1:
120545212-120545220
TAGAAGAAGTAGAAGintronicDe novo--Yuen2017 G
NOTCH2     PN400474chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     2-1353-003chr1:
120561007-120561007
TCintronicDe novo--Yuen2017 G
NOTCH2     1-0936-003chr1:
120804699-120804699
CTintergenicDe novo--Yuen2017 G
NOTCH2     1-0255-003chr1:
120627240-120627240
TCintergenicDe novo--Yuen2017 G
NOTCH2     AU4012302chr1:
120629111-120629111
TCintergenicDe novo--Yuen2017 G
NOTCH2     AU4168306chr1:
120545501-120545502
GTGTTintronicDe novo--Yuen2017 G
NOTCH2     PN400551chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     PN400560chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     2-1562-004chr1:
120466387-120466387
GAexonicDe novononsynonymous SNVNM_024408c.C4732Tp.R1578C17.494.944E-5Yuen2017 G
NOTCH2     7-0219-003chr1:
120649129-120649129
GAintergenicDe novo--Yuen2017 G
NOTCH2     7-0077-003chr1:
120523078-120523078
CTintronicDe novo--Yuen2017 G
NOTCH2     AU2129303chr1:
120676526-120676526
GAintergenicDe novo--Yuen2017 G
NOTCH2     PN400249chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     Shi2013:2chr1:
120459206-120459206
GAexonicInheritednonsynonymous SNVNM_024408c.C6139Tp.R2047W15.591.651E-5Shi2013 G
NOTCH2     AU4269301chr1:
120766260-120766260
CTintergenicDe novo--Yuen2017 G
NOTCH2     2-1215-003chr1:
120472994-120472994
TCintronicDe novo--Yuen2017 G
NOTCH2     AU0146302chr1:
120529263-120529263
AGintronicDe novo--Yuen2017 G
NOTCH2     AU4197302chr1:
120756699-120756699
CAintergenicDe novo--Yuen2017 G
NOTCH2     2-1222-003chr1:
120632753-120632753
CTintergenicDe novo--Yuen2017 G
NOTCH2     PN400464chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     PN400562chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     2-1592-003chr1:
120545213-120545213
AGintronicDe novo--Yuen2017 G
NOTCH2     1-0375-003chr1:
120811777-120811777
AGintergenicDe novo--Yuen2017 G
NOTCH2     PN400528chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     7-0080-003chr1:
120489578-120489578
CTintronicDe novo--Yuen2017 G
NOTCH2     AU3725302chr1:
120536611-120536611
GCintronicDe novo--Yuen2017 G
NOTCH2     AU4234302chr1:
120586935-120586935
GCintronicDe novo--Yuen2017 G
NOTCH2     AU036203chr1:
120537296-120537297
ACAintronicDe novo--Yuen2017 G
NOTCH2     2-0045-003chr1:
120616927-120616927
TCintergenicDe novo--Yuen2017 G
NOTCH2     PN400556chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     3-0456-000chr1:
120695823-120695823
CAintergenicDe novo--Yuen2017 G
NOTCH2     PN400347chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     2-1364-003chr1:
120825616-120825616
TCintergenicDe novo--Yuen2017 G
NOTCH2     1-0469-005chr1:
120517716-120517716
TCintronicDe novo--Yuen2017 G
NOTCH2     AU4027306chr1:
120557611-120557611
TAintronicDe novo--Yuen2017 G
NOTCH2     PN400280chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     PN400559chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
NOTCH2     PN400264chr1:
120529697-120529697
CAexonicUnknownnonsynonymous SNVNM_001200001
NM_024408
c.G760T
c.G760T
p.G254W
p.G254W
29.4-Leblond2019 E
Source Variant Information

, -

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
More