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Results for "CDC27"

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
CDC27     2-1198-003chr17:
45264812-45264812
GAintronicDe novo--Trost2022 G
CDC27     SP0223283chr17:
45234350-45234350
CTexonicDe novosynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.G588A
c.G771A
c.G771A
c.G771A
p.Q196Q
p.Q257Q
p.Q257Q
p.Q257Q
-0.0169Trost2022 G
CDC27     3-0305-000chr17:
45244382-45244382
GAintronicDe novo--Trost2022 G
CDC27     SSC05671chr17:
45219310-45219310
AGexonicDe novononsynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.T1277C
c.T1478C
c.T1460C
c.T1457C
p.I426T
p.I493T
p.I487T
p.I486T
11.910.0013Trost2022 G
CDC27     AU4024303chr17:
45205894-45205894
CTintronicDe novo--Trost2022 G
Yuen2017 G
CDC27     AU2495301chr17:
45198384-45198384
CAsplicingPaternalsplicing16.25-Cirnigliaro2023 G
CDC27     14561.p1chr17:
45219777-45219777
TCexonicnonsynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.A1013G
c.A1214G
c.A1196G
c.A1196G
p.K338R
p.K405R
p.K399R
p.K399R
15.47-Zhou2022 GE
CDC27     5-0146-003chr17:
45268211-45268211
GTintergenicDe novo--Yuen2017 G
CDC27     AU2797301chr17:
45234611-45234611
TCexonicsynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.A432G
c.A615G
c.A615G
c.A615G
p.T144T
p.T205T
p.T205T
p.T205T
--Zhou2022 GE
CDC27     08C76934chr17:
45234611-45234611
TCexonicDe novosynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.A432G
c.A615G
c.A615G
c.A615G
p.T144T
p.T205T
p.T205T
p.T205T
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CDC27     2-0713-003chr17:
45242792-45242792
CGintronicDe novo--Trost2022 G
Yuen2017 G
CDC27     JASD_Fam0072chr17:
45219311-45219311
TCexonicDe novononsynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.A1276G
c.A1477G
c.A1459G
c.A1456G
p.I426V
p.I493V
p.I487V
p.I486V
4.7310.0121Takata2018 E
CDC27     12772.p1chr17:
45219310-45219310
AGexonicDe novononsynonymous SNVNM_001293091
NM_001114091
NM_001256
NM_001293089
c.T1277C
c.T1478C
c.T1460C
c.T1457C
p.I426T
p.I493T
p.I487T
p.I486T
11.910.0013Satterstrom2020 E
Source Variant Information

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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
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