or
or
Exact

Results for "CHAMP1"

Variant Events: 5

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
CHAMP1     BO15/10chr13:
115090509-115090509
CTexonicDe novostopgainNM_001164144
NM_001164145
NM_032436
c.C1192T
c.C1192T
c.C1192T
p.R398X
p.R398X
p.R398X
38.0-O’Roak2014 T
CHAMP1     1-0052-004chr13:
115086149-115086149
GAintronicDe novo--Yuen2017 G
CHAMP1     383404chr13:
115091755-115091755
GTexonicUnknownstoplossNM_001164144
NM_001164145
NM_032436
c.G2438T
c.G2438T
c.G2438T
p.X813L
p.X813L
p.X813L
4.305-Wang2020 T
CHAMP1     2-1644-004chr13:
115090609-115090609
GAexonicDe novononsynonymous SNVNM_001164144
NM_001164145
NM_032436
c.G1292A
c.G1292A
c.G1292A
p.R431H
p.R431H
p.R431H
14.438.244E-6Wang2020 T
Yuen2017 G
CHAMP1     SF0013820.p1chr13:
115090509-115090509
CTexonicDe novostopgainNM_001164144
NM_001164145
NM_032436
c.C1192T
c.C1192T
c.C1192T
p.R398X
p.R398X
p.R398X
38.0-Wang2020 T
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