or
or
Exact

Results for "CXXC1"

Variant Events: 7

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
CXXC1     AU4069302chr18:
47821951-47821952
GTGintergenicDe novo--Yuen2017 G
CXXC1     JASD_Fam0212chr18:
47810914-47810914
GAexonicDe novononsynonymous SNVNM_001101654
NM_014593
c.C1051T
c.C1039T
p.R351W
p.R347W
17.38-Takata2018 E
CXXC1     AU4079302chr18:
47834260-47834260
CTintergenicDe novo--Yuen2017 G
CXXC1     AU4013303chr18:
47809151-47809151
ATintronicDe novo--Yuen2017 G
CXXC1     iHART1448chr18:
47811371-47811371
CGsplicingPaternalsplicing11.7-Ruzzo2019 G
CXXC1     2-0116-004chr18:
47866194-47866194
AGintergenicDe novo--Yuen2017 G
CXXC1     1-0394-003chr18:
47821640-47821640
TCintergenicDe 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