or
or
Exact

Results for "CTH"

Variant Events: 11

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
CTH     AU2129303chr1:
71015933-71015937
GCACAGCAintergenicDe novo--Yuen2017 G
CTH     2-1153-003chr1:
71015386-71015386
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CTH     2-0057-003chr1:
71000874-71000874
CTintergenicDe novo--Yuen2017 G
CTH     AU3862305chr1:
71106827-71106827
TAintergenicDe novo--Yuen2017 G
CTH     AU4027306chr1:
70928147-70928147
CAintergenicDe novo--Yuen2017 G
CTH     AU4028302chr1:
70944353-70944353
CTintergenicDe novo--Yuen2017 G
CTH     08C78508chr1:
70889989-70889989
AGexonicDe novononsynonymous SNVNM_001190463
NM_001902
c.A382G
c.A478G
p.T128A
p.T160A
17.67-Satterstrom2020 E
CTH     13324.p1chr1:
70893320-70893320
ACintronicDe novo--Turner2016 G
CTH     2-1426-003chr1:
71091911-71091911
CTintergenicDe novo--Yuen2017 G
CTH     AU005214chr1:
70876596-70876596
CTupstreamDe novo--Yuen2017 G
CTH     1-0232-004chr1:
70898118-70898118
CTintronicDe 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