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Results for "LRPAP1"

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
LRPAP1     1-0346-004chr4:
3507360-3507360
GAUTR3De novo--Yuen2017 G
LRPAP1     AU051504chr4:
3542500-3542500
AGintergenicDe novo--Yuen2017 G
LRPAP1     2-1254-003chr4:
3572710-3572710
GAintergenicDe novo--Yuen2017 G
LRPAP1     AU058104chr4:
3519826-3519826
CTexonicDe novononsynonymous SNVNM_002337c.G686Ap.R229H12.093.345E-5Yuen2017 G
LRPAP1     2-1368-003chr4:
3569346-3569346
TGintergenicDe novo--Yuen2017 G
LRPAP1     AU3517301chr4:
3552740-3552740
CCTintergenicDe novo--Yuen2017 G
LRPAP1     13998.p1chr4:
3516547-3516547
CTexonicDe novononsynonymous SNVNM_002337c.G943Ap.E315K19.494.143E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
LRPAP1     SSC09929chr4:
3516547-3516547
CTexonicDe novononsynonymous SNVNM_002337c.G943Ap.E315K19.494.143E-5Lim2017 E
LRPAP1     AU2215302chr4:
3565874-3565880
GACACACGACintergenicDe novo--Yuen2017 G
LRPAP1     1-0022-004chr4:
3558996-3558996
CGintergenicDe novo--Yuen2017 G
LRPAP1     1-0763-003chr4:
3528287-3528287
GAintronicDe novo--Yuen2017 G
LRPAP1     Cukier2014:7637chr4:
3526715-3526715
CTexonicUnknownnonsynonymous SNVNM_002337c.G268Ap.E90K20.12.0E-4Cukier2014 E
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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