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Results for "MRPL28"

Variant Events: 70

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
MRPL28     PN400534chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400470chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400490chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400523chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     mAGRE5499chr16:
418590-418590
GAexonicMaternalstopgainNM_006428c.C487Tp.R163X14.28.804E-6Cirnigliaro2023 G
MRPL28     PN400219chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400124chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400347chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400416chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400149chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400179chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400372chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400313chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400579chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400531chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400305chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400393chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400480chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400517chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400150chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400367chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400209chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400410chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400260chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400195chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400417chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400505chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400474chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400359chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400524chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400348chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400133chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400385chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400341chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400581chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400551chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     2-1437-003chr16:
417864-417864
CTintronicDe novo--Trost2022 G
Yuen2017 G
MRPL28     PN400292chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400512chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400317chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400369chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400108chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400115chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400240chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400349chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     SP0150021chr16:
420152-420152
GAexonicDe novononsynonymous SNVNM_006428c.C67Tp.R23C20.81.224E-5Trost2022 G
MRPL28     PN400539chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400412chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400249chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400424chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400501chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400386chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400326chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400582chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400128chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400540chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400127chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400257chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400464chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400546chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400144chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400371chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400166chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400215chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400495chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400350chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400129chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400443chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400584chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 E
MRPL28     PN400380chr16:
419614-419614
CCCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCTintronicUnknown-0.0606Leblond2019 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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