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Results for "KLHL18"

Variant Events: 12

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
KLHL18     3-0140-000chr3:
47376220-47376220
GAexonicDe novononsynonymous SNVNM_025010c.G809Ap.R270Q27.52.0E-4Tammimies2015 E
Yuen2017 G
KLHL18     5-0030-003chr3:
47387578-47387578
TCUTR3De novo--Yuen2017 G
KLHL18     63-449chr3:
47407734-47407734
TAintergenicDe novo--Michaelson2012 G
KLHL18     1-0638-003chr3:
47372339-47372339
AGintronicDe novo--Yuen2017 G
KLHL18     2-0158-003chr3:
47369746-47369746
CTintronicDe novo--Yuen2017 G
KLHL18     2-1341-003chr3:
47375168-47375168
AGintronicDe novo--Yuen2017 G
KLHL18     5-0087-003chr3:
47404804-47404804
CGintergenicDe novo--Yuen2017 G
KLHL18     AU026604chr3:
47327745-47327745
TCintronicDe novo--Yuen2017 G
KLHL18     13543.p1chr3:
47379072-47379072
AGintronicDe novo--Turner2016 G
KLHL18     AU054103chr3:
47374922-47374922
GAintronicDe novo--Yuen2017 G
KLHL18     1-0458-003chr3:
47350597-47350597
CGintronicDe novo--Yuen2017 G
KLHL18     2-1359-003chr3:
47380284-47380284
GAintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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