or
or
Exact

Results for "CDH1"

Variant Events: 10

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
CDH1     2-1275-003chr16:
68831150-68831150
CTintronicDe novo--Yuen2017 G
CDH1     AU4027306chr16:
68834043-68834043
GAintronicDe novo--Yuen2017 G
CDH1     340-09-111760chr16:
68849662-68849662
CTexonicDe novononsynonymous SNVNM_001317184
NM_001317185
NM_004360
c.C1382T
c.C17T
c.C1565T
p.T461I
p.T6I
p.T522I
12.53-Satterstrom2020 E
CDH1     2-0142-003chr16:
68779243-68779260
AGCCAGGTATGGTGGCGTAintronicDe novo--Yuen2017 G
CDH1     2-1292-003chr16:
68776575-68776575
TCintronicDe novo--Yuen2017 G
CDH1     2-1164-003chr16:
68864457-68864462
ACAGATAintronicDe novo--Yuen2016 G
Yuen2017 G
CDH1     2-0142-004chr16:
68779243-68779260
AGCCAGGTATGGTGGCGTAintronicDe novo--Yuen2017 G
CDH1     2-0215-003chr16:
68868196-68868196
GAUTR3De novo-9.804E-5Yuen2017 G
CDH1     1-0488-003chr16:
68807851-68807851
GAintronicDe novo--Yuen2017 G
CDH1     Cukier2014:7936chr16:
68855966-68855966
GAexonicUnknownnonsynonymous SNVNM_001317184
NM_001317185
NM_004360
c.G1591A
c.G226A
c.G1774A
p.A531T
p.A76T
p.A592T
15.260.0032Cukier2014 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