or
or
Exact

Results for "CDC45"

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
CDC45     5-0083-003chr22:
19497355-19497355
GTintronicDe novo--Yuen2017 G
CDC45     GX0112.p1chr22:
19468525-19468525
GAexonicMaternalnonsynonymous SNVNM_001178010
NM_001178011
NM_003504
c.G161A
c.G161A
c.G161A
p.G54E
p.G54E
p.G54E
32.01.0E-4Guo2018 T
CDC45     07C68916chr22:
19483521-19483521
ATexonicUnknownnonsynonymous SNVNM_001178011
NM_003504
NM_001178010
c.A422T
c.A560T
c.A656T
p.D141V
p.D187V
p.D219V
25.9-Stessman2017 T
CDC45     217-14352-4660chr22:
19502486-19502486
AGsplicingMaternalsplicing14.48-Stessman2017 T
CDC45     AU025506chr22:
19504369-19504369
CTexonicInheritednonsynonymous SNVNM_001178011
NM_003504
NM_001178010
c.C1451T
c.C1589T
c.C1685T
p.A484V
p.A530V
p.A562V
34.0-Stessman2017 T
CDC45     M17688chr22:
19471511-19471511
CAexonicPaternalnonsynonymous SNVNM_001178011
NM_001178010
NM_003504
c.C331A
c.C469A
c.C469A
p.R111S
p.R157S
p.R157S
31.0-Guo2018 T
Wang2016 T
CDC45     Y9P9Schr22:
19502333-19502333
CTexonicInheritedstopgainNM_001178011
NM_003504
NM_001178010
c.C1141T
c.C1279T
c.C1375T
p.Q381X
p.Q427X
p.Q459X
39.0-Stessman2017 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