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Results for "LPA"

Variant Events: 17

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
LPA     2-0310-004chr6:
160955991-160955991
CAintronicDe novo--Yuen2017 G
LPA     2-0210-004chr6:
161089939-161089939
GGTGCAAintergenicDe novo--Yuen2017 G
LPA     AU2029302chr6:
161055602-161055602
TAintronicDe novo--Yuen2017 G
LPA     iHART2537chr6:
160968821-160968821
AATexonicMaternalframeshift insertionNM_005577c.5303dupAp.N1768fs-1.655E-5Ruzzo2019 G
LPA     AU4033303chr6:
161055942-161055942
GCintronicDe novo--Yuen2017 G
LPA     2-1336-004chr6:
160994189-160994189
GAintronicDe novo--Yuen2017 G
LPA     AU4359301chr6:
161072847-161072847
GAintronicDe novo--Yuen2017 G
LPA     G01-GEA-145-HIchr6:
161056186-161056186
CTexonicMosaicsynonymous SNVNM_005577c.G1044Ap.P348P-2.756E-5Lim2017 E
LPA     2-1182-003chr6:
160995091-160995091
GAintronicDe novo--Yuen2016 G
Yuen2017 G
LPA     AU3888302chr6:
161055385-161055385
CGintronicDe novo--Yuen2017 G
LPA     AU3368302chr6:
161056038-161056038
AGintronicDe novo--Yuen2017 G
LPA     12687.p1chr6:
160998168-160998168
GAexonicMosaicnonsynonymous SNVNM_005577c.C4631Tp.A1544V11.44.138E-5Dou2017 E
Krupp2017 E
LPA     AU3885304chr6:
160956397-160956397
AAGGGintronicDe novo--Yuen2017 G
LPA     1-0389-004chr6:
161090042-161090042
CAintergenicDe novo--Yuen2017 G
LPA     7-0249-003chr6:
161056030-161056030
CTintronicDe novo--Yuen2017 G
LPA     7-0149-003chr6:
161084698-161084698
TCintronicDe novo--Yuen2017 G
LPA     3-0482-000chr6:
161055876-161055876
CTintronicDe 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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