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Results for "RTP5"

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
RTP5     2-1341-003chr2:
242817647-242817647
TCintergenicDe novo--Yuen2017 G
RTP5     iHART2073chr2:
242811935-242811935
GAexonicMaternalstopgainNM_173821c.G27Ap.W9X15.933.0E-4Ruzzo2019 G
RTP5     iHART2077chr2:
242811935-242811935
GAexonicMaternalstopgainNM_173821c.G27Ap.W9X15.933.0E-4Ruzzo2019 G
RTP5     iHART2024chr2:
242814381-242814382
CTCexonicMaternalframeshift deletionNM_173821c.675delTp.P225fs-1.733E-5Ruzzo2019 G
RTP5     2-1146-003chr2:
242814757-242814757
CTexonicDe novosynonymous SNVNM_173821c.C1050Tp.T350T-1.86E-5Yuen2017 G
RTP5     Cukier2014:18074chr2:
242814639-242814639
TCexonicUnknownnonsynonymous SNVNM_173821c.T932Cp.L311P5.8210.0874Cukier2014 E
RTP5     Cukier2014:18074chr2:
242815059-242815059
CTexonicUnknownnonsynonymous SNVNM_173821c.C1352Tp.A451V13.010.0884Cukier2014 E
RTP5     00HI1403Achr2:
242815465-242815465
GAUTR3De novo--Satterstrom2020 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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