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Results for "KLHL14"

Variant Events: 16

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
KLHL14     2-1315-003chr18:
30332188-30332188
ACintronicDe novo--Yuen2016 G
Yuen2017 G
KLHL14     11C120635chr18:
30349680-30349680
TCexonicDe novononsynonymous SNVNM_020805c.A875Gp.K292R11.15-DeRubeis2014 E
Kosmicki2017 E
KLHL14     11C120635chr18:
30349686-30349686
CAexonicDe novononsynonymous SNVNM_020805c.G869Tp.C290F18.22-DeRubeis2014 E
Kosmicki2017 E
KLHL14     1-0871-003chr18:
30379966-30379966
GAintergenicDe novo--Yuen2017 G
KLHL14     1-0871-003chr18:
30379964-30379964
GAintergenicDe novo--Yuen2017 G
KLHL14     13048.p1chr18:
30260416-30260416
GAexonicDe novononsynonymous SNVNM_020805c.C1385Tp.A462V23.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
KLHL14     AU002405chr18:
30282303-30282304
TGTintronicDe novo--Yuen2017 G
KLHL14     63-343chr18:
30414210-30414210
ATintergenicDe novo--Michaelson2012 G
KLHL14     AU4376301chr18:
30256065-30256065
GAintronicDe novo--Yuen2017 G
KLHL14     2-1291-003chr18:
30345054-30345054
AGintronicDe novo--Yuen2016 G
Yuen2017 G
KLHL14     Lim2017:4909chr18:
30260416-30260416
GAexonicDe novononsynonymous SNVNM_020805c.C1385Tp.A462V23.4-Lim2017 E
KLHL14     2-1430-003chr18:
30377495-30377495
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
KLHL14     AU4376301chr18:
30275144-30275144
GCintronicDe novo--Yuen2017 G
KLHL14     2-1430-003chr18:
30491024-30491024
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
KLHL14     AU4376301chr18:
30289817-30289817
GAintronicDe novo--Yuen2017 G
KLHL14     AU058103chr18:
30510378-30510378
TCintergenicDe 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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