or
or
Exact

Results for "POLK"

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
POLK     AU4079302chr5:
74815787-74815787
GCintronicDe novo--Yuen2017 G
POLK     AU4479301chr5:
74822443-74822443
GTintronicDe novo--Yuen2017 G
POLK     MT_76chr5:
74882866-74882867
AAAexonicMaternalframeshift deletionNM_016218c.1243delAp.S415fs--Toma2013 E
POLK     1-0651-003chr5:
74854465-74854465
GCintronicDe novo--Yuen2017 G
POLK     2-1318-004chr5:
74856721-74856721
TGintronicDe novo--Yuen2017 G
POLK     AU4129303chr5:
74903702-74903702
AGintergenicDe novo--Yuen2017 G
POLK     AU2019302chr5:
74905436-74905438
CCTCintergenicDe 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