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Results for "LRP4"

Variant Events: 8

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
LRP4     AU4392301chr11:
46897496-46897496
CTexonicDe novostopgainNM_002334c.G3558Ap.W1186X44.0-Yuen2017 G
LRP4     200675509@1082034166chr11:
46911117-46911117
GAintronicDe novo-1.662E-5Satterstrom2020 E
LRP4     12382.p1chr11:
46889553-46889553
CTexonicDe novosynonymous SNVNM_002334c.G5064Ap.T1688T-4.119E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
LRP4     7-0067-003chr11:
46920981-46920981
GAexonicDe novosynonymous SNVNM_002334c.C504Tp.D168D-8.241E-6Yuen2017 G
LRP4     1-0272-003chr11:
46915015-46915015
ATintronicDe novo--Yuen2017 G
LRP4     AU1355301chr11:
46922727-46922728
CTCTTintronicDe novo--Yuen2017 G
LRP4     EGAN00001101089chr11:
46898868-46898868
GAexonicDe novosynonymous SNVNM_002334c.C3159Tp.F1053F-1.648E-5Satterstrom2020 E
LRP4     SP0032848chr11:
46880739-46880739
CTexonicDe novononsynonymous SNVNM_002334c.G5513Ap.R1838Q23.71.0E-4Feliciano2019 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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