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Results for "KLHL8"

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
KLHL8     3-0436-000chr4:
88172476-88172476
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
KLHL8     AU2137304chr4:
88098093-88098093
CTintronicDe novo--Yuen2017 G
KLHL8     1-0454-003chr4:
88194664-88194664
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
KLHL8     1-0073-003chr4:
88125142-88125142
CAintronicDe novo--Yuen2017 G
KLHL8     7-0256-003chr4:
88175340-88175340
CTintergenicDe novo--Yuen2017 G
KLHL8     2-0149-004chr4:
88103118-88103118
CTintronicDe novo--Yuen2017 G
KLHL8     AU072504chr4:
88100755-88100755
CTintronicDe novo--Yuen2017 G
KLHL8     2-1093-003chr4:
88098315-88098315
GAintronicDe novo--Yuen2017 G
KLHL8     1-0604-003chr4:
88144016-88144016
ACintergenicDe novo--Yuen2017 G
KLHL8     MT_69chr4:
88099691-88099691
CTexonicPaternalnonsynonymous SNVNM_001292007
NM_001292003
NM_001292006
NM_020803
c.G485A
c.G1034A
c.G806A
c.G1034A
p.S162N
p.S345N
p.S269N
p.S345N
29.32.472E-5Toma2013 E
KLHL8     1-0345-003chr4:
88216323-88216323
GAintergenicDe novo--Yuen2017 G
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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