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Results for "LOXHD1"

Variant Events: 18

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
LOXHD1     2-0202-003chr18:
44234403-44234403
CGintronicDe novo--Yuen2017 G
LOXHD1     2-0298-004chr18:
44172473-44172473
CAexonicDe novononsynonymous SNVNM_144612c.G1506Tp.W502C14.59-Yuen2015 G
LOXHD1     AU4079302chr18:
44070081-44070081
CTintronicDe novo--Yuen2017 G
LOXHD1     AU3610302chr18:
44080995-44080995
GAintronicDe novo--Yuen2017 G
LOXHD1     AU3638302chr18:
44095456-44095456
GCintronicDe novo--Yuen2017 G
LOXHD1     2-0018-004chr18:
44245841-44245841
CAintergenicDe novo--Yuen2017 G
LOXHD1     AU3865301chr18:
44139159-44139159
CTUTR5De novo--Yuen2017 G
LOXHD1     G01-GEA-335_HIchr18:
44219746-44219746
GCexonicDe novononsynonymous SNVNM_144612c.C344Gp.T115R14.88-Satterstrom2020 E
LOXHD1     A27chr18:
44171322-44171322
GAintronicDe novo--Wu2018 G
LOXHD1     08C76578chr18:
44152048-44152048
CTsplicingDe novosplicing28.6-Satterstrom2020 E
LOXHD1     08C78371chr18:
44087510-44087510
CTexonicDe novononsynonymous SNVNM_001145473
NM_001173129
NM_001308013
NM_001145472
NM_144612
c.G400A
c.G400A
c.G2062A
c.G2350A
c.G5497A
p.D134N
p.D134N
p.D688N
p.D784N
p.D1833N
5.667-Satterstrom2020 E
LOXHD1     2-1719-003chr18:
44102052-44102052
AGintronicDe novo--Yuen2017 G
LOXHD1     12296.p1chr18:
44140062-44140062
GTexonicDe novosynonymous SNVNM_144612c.C3045Ap.G1015G5.651-Krumm2015 E
LOXHD1     2-0238-004chr18:
44231083-44231083
CTintronicDe novo--Yuen2017 G
LOXHD1     1-1000-003chr18:
44136916-44136919
CCACCCintronicDe novo--Yuen2017 G
LOXHD1     3C143chr18:
44140020-44140020
AACCCCCCCCCCCCCCCCCCintronicDe novo--Satterstrom2020 E
LOXHD1     2-1391-003chr18:
44197896-44197896
GCintronicDe novo--Yuen2017 G
LOXHD1     5-0071-003chr18:
44129897-44129897
TCintronicDe 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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