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Results for "LOXL3"

Variant Events: 6

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
LOXL3     A20 Complex Event; expand row to view variants  De novoframeshift deletionNM_001289165
NM_001289164
NM_032603
NM_001289165
NM_001289164
NM_032603
c.1092_1095del
c.1740_1743del
c.2175_2178del
c.1097delG
c.1745delG
c.2180delG
p.H364fs
p.H580fs
p.H725fs
p.C366fs
p.C582fs
p.C727fs
--Wu2018 G
Wu2018 G
LOXL3     Li2017:20627chr2:
74779722-74779722
GGCexonicUnknownframeshift insertionNM_001289164
NM_032603
c.39dupG
c.39dupG
p.L14fs
p.L14fs
-3.408E-5Li2017 T
LOXL3     A08028-3 Complex Event; expand row to view variants  Unknownframeshift deletionNM_001289165
NM_001289164
NM_032603
NM_001289165
NM_001289164
NM_032603
c.1092_1095del
c.1740_1743del
c.2175_2178del
c.1097delG
c.1745delG
c.2180delG
p.H364fs
p.H580fs
p.H725fs
p.C366fs
p.C582fs
p.C727fs
--Li2017 T
Li2017 T
LOXL3     iHART2007chr2:
74761716-74761716
GAexonicMaternalstopgainNM_001289165
NM_001289164
NM_032603
c.C682T
c.C1330T
c.C1765T
p.R228X
p.R444X
p.R589X
32.01.652E-5Ruzzo2019 G
LOXL3     Li2017:20567chr2:
74762849-74762849
CTexonicUnknownnonsynonymous SNVNM_001289165
NM_001289164
NM_032603
c.G199A
c.G847A
c.G1282A
p.G67R
p.G283R
p.G428R
25.8-Li2017 T
LOXL3     Li2017:23142chr2:
74762845-74762845
CTexonicUnknownnonsynonymous SNVNM_001289165
NM_001289164
NM_032603
c.G203A
c.G851A
c.G1286A
p.R68Q
p.R284Q
p.R429Q
32.08.643E-6Li2017 T
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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