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Results for "POLH"

Variant Events: 10

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
POLH     Cukier2014:7936chr6:
43582176-43582176
CAexonicUnknownnonsynonymous SNVNM_001291969
NM_006502
c.C1652A
c.C2024A
p.S551Y
p.S675Y
11.930.0018Cukier2014 E
POLH     AU3727303chr6:
43580831-43580831
GAintronicDe novo--Yuen2017 G
POLH     AU4145301chr6:
43563811-43563811
TCintronicDe novo--Yuen2017 G
POLH     SP0081485chr6:
43550254-43550254
CAintronicDe novo--Fu2022 E
POLH     SP0043284chr6:
43550215-43550215
AGintronicDe novo--Fu2022 E
POLH     SP0018718chr6:
43550770-43550770
GAexonicDe novononsynonymous SNVNM_001291969
NM_001291970
NM_006502
c.G10A
c.G164A
c.G164A
p.V4M
p.R55H
p.R55H
36.03.336E-5Feliciano2019 E
POLH     2-1406-003chr6:
43545163-43545163
GAintronicDe novo--Yuen2016 G
Yuen2017 G
POLH     AU066403chr6:
43578581-43578583
CATCintronicDe novo--Yuen2017 G
POLH     SSC00250chr6:
43582216-43582216
TCexonicDe novosynonymous SNVNM_001291969
NM_006502
c.T1692C
c.T2064C
p.P564P
p.P688P
--Fu2022 E
Lim2017 E
POLH     11454.p1chr6:
43582216-43582216
TCexonicDe novosynonymous SNVNM_001291969
NM_006502
c.T1692C
c.T2064C
p.P564P
p.P688P
--Krumm2015 E
Satterstrom2020 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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