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Results for "LRP10"

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
LRP10     iHART2262chr14:
23346254-23346254
CTexonicMaternalstopgainNM_014045c.C1660Tp.R554X37.01.0E-4Ruzzo2019 G
LRP10     iHART2962chr14:
23345370-23345370
CTexonicPaternalstopgainNM_014045c.C1213Tp.R405X36.01.648E-5Ruzzo2019 G
LRP10     NP147chr14:
23346233-23346233
CTexonicDe novononsynonymous SNVNM_014045c.C1639Tp.R547C16.79-Satterstrom2020 E
LRP10     044-07-107700chr14:
23345199-23345199
ACexonicDe novononsynonymous SNVNM_014045c.A1042Cp.T348P19.31-Satterstrom2020 E
LRP10     iHART2261chr14:
23346254-23346254
CTexonicMaternalstopgainNM_014045c.C1660Tp.R554X37.01.0E-4Ruzzo2019 G
LRP10     SP0024921chr14:
23345066-23345066
TCexonicDe novosynonymous SNVNM_014045c.T909Cp.H303H6.607-Feliciano2019 E
LRP10     iHART2959chr14:
23345370-23345370
CTexonicPaternalstopgainNM_014045c.C1213Tp.R405X36.01.648E-5Ruzzo2019 G
LRP10     MT_69chr14:
23345532-23345532
GAexonicMaternalnonsynonymous SNVNM_014045c.G1375Ap.A459T32.0-Toma2013 E
LRP10     JASD_Fam0190chr14:
23346233-23346233
CTexonicDe novononsynonymous SNVNM_014045c.C1639Tp.R547C16.79-Takata2018 E
LRP10     09C95304chr14:
23344567-23344567
GAexonicDe novostopgainNM_014045c.G410Ap.W137X22.5-Satterstrom2020 E
LRP10     SP0048034chr14:
23345963-23345963
GAexonicDe novononsynonymous SNVNM_014045c.G1490Ap.G497E31.0-Feliciano2019 E
LRP10     ASC_CA_74_Achr14:
23344630-23344630
GAexonicDe novononsynonymous SNVNM_014045c.G473Ap.R158H13.866.616E-5Satterstrom2020 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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