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Results for "MMP21"

Variant Events: 10

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
MMP21     SP0239822chr10:
127462560-127462560
CGexonicDe novosynonymous SNVNM_147191c.G537Cp.R179R--Trost2022 G
MMP21     mAGRE1980chr10:
127456139-127456139
GAexonicMaternalstopgainNM_147191c.C1372Tp.R458X16.082.0E-4Cirnigliaro2023 G
MMP21     NDAR_INVNT563VL9_wes1chr10:
127461301-127461301
GAexonicDe novononsynonymous SNVNM_147191c.C716Tp.P239L9.8348.381E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MMP21     mAGRE2704chr10:
127456133-127456133
GAexonicPaternalstopgainNM_147191c.C1378Tp.Q460X13.228.243E-6Cirnigliaro2023 G
MMP21     SP0208744chr10:
127455201-127455201
CGUTR3De novo--Trost2022 G
MMP21     156-3925chr10:
127460819-127460819
CTexonicInheritedstopgainNM_147191c.G947Ap.W316X19.58-Patowary2019 E
MMP21     iHART2704chr10:
127456133-127456133
GAexonicPaternalstopgainNM_147191c.C1378Tp.Q460X13.228.243E-6Ruzzo2019 G
MMP21     AU3911301chr10:
127461912-127461912
TAintronicDe novo--Trost2022 G
Yuen2017 G
MMP21     7-0051-003chr10:
127462538-127462538
TGexonicDe novononsynonymous SNVNM_147191c.A559Cp.S187R11.66-Trost2022 G
Zhou2022 GE
MMP21     iHART1980chr10:
127456139-127456139
GAexonicMaternalstopgainNM_147191c.C1372Tp.R458X16.082.0E-4Ruzzo2019 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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