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Results for "LRCH3"

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
LRCH3     11356.p1chr3:
197562676-197562676
CTexonicMosaicnonsynonymous SNVNM_032773c.C1234Tp.R412W18.088.237E-6Krupp2017 E
LRCH3     Lim2017:6263chr3:
197597062-197597062
ACexonicDe novosynonymous SNVNM_032773c.A1905Cp.A635A0.6829.0E-4Lim2017 E
LRCH3     1-0296-004chr3:
197551610-197551610
CTintronicDe novo--Yuen2017 G
LRCH3     1-0052-003chr3:
197592205-197592205
TGintronicDe novo--Yuen2017 G
LRCH3     AU2437302 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
LRCH3     1-0282-003chr3:
197606954-197606954
CTintergenicDe novo--Yuen2017 G
LRCH3     AU2863302chr3:
197557891-197557891
GCintronicDe novo--Yuen2017 G
LRCH3     AU030804chr3:
197531598-197531598
GAintronicDe novo--Yuen2017 G
LRCH3     AU3190305chr3:
197614227-197614227
CCCTintergenicDe novo--Yuen2017 G
LRCH3     AU2437302chr3:
197606962-197606962
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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