or
or
Exact

Results for "CPED1"

Variant Events: 13

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
CPED1     13874.p1chr7:
120687801-120687801
ACintronicDe novo--Turner2016 G
CPED1     AU4273304chr7:
120739204-120739204
AGintronicDe novo--Yuen2017 G
CPED1     2-0310-004chr7:
120909016-120909016
TCintronicDe novo--Yuen2017 G
CPED1     2-1138-003chr7:
120758135-120758135
AGintronicDe novo--Yuen2017 G
CPED1     2-1153-003chr7:
120751089-120751089
TCintronicDe novo--Yuen2017 G
CPED1     AU4223302chr7:
120828156-120828156
GAintronicDe novo--Yuen2017 G
CPED1     2-0198-004chr7:
120820171-120820171
TGintronicDe novo--Yuen2017 G
CPED1     AU4032306chr7:
120920052-120920052
GAintronicDe novo--Yuen2017 G
CPED1     2-0198-005chr7:
120820171-120820171
TGintronicDe novo--Yuen2017 G
CPED1     AU003406chr7:
120828035-120828035
AGintronicDe novo--Yuen2017 G
CPED1     AU3371301chr7:
120633224-120633224
CTintronicDe novo--Yuen2017 G
CPED1     2-0198-003chr7:
120820171-120820171
TGintronicDe novo--Yuen2017 G
CPED1     AU2109302chr7:
120668345-120668345
CGintronicDe novo--Yuen2017 G
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