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Results for "MMRN1"

Variant Events: 19

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
MMRN1     12593.p1chr4:
90833158-90833158
GCexonicMosaic, De novononsynonymous SNVNM_007351c.G807Cp.W269C18.99-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
MMRN1     74-0265chr4:
91040620-91040620
TCintergenicDe novo--Michaelson2012 G
MMRN1     2-1358-003chr4:
91024500-91024500
CTintergenicDe novo--Yuen2017 G
MMRN1     12449.p1chr4:
90954464-90954464
GAintergenicDe novo--Turner2016 G
MMRN1     2-1093-005chr4:
90936946-90936946
GAintergenicDe novo--Yuen2017 G
MMRN1     2-1205-003chr4:
90816817-90816817
TCintronicDe novo--Yuen2016 G
Yuen2017 G
MMRN1     AU3713301chr4:
90770210-90770210
TCintergenicDe novo--Yuen2017 G
MMRN1     2-1254-003chr4:
90877110-90877110
AGintergenicDe novo--Yuen2016 G
MMRN1     1-0045-003chr4:
90882284-90882284
CGintergenicDe novo--Yuen2017 G
MMRN1     AU4072303chr4:
90970627-90970630
TTCTTTintergenicDe novo--Yuen2017 G
MMRN1     SSC05093chr4:
90833158-90833158
GCexonicDe novononsynonymous SNVNM_007351c.G807Cp.W269C18.99-Lim2017 E
MMRN1     05C44735chr4:
90816489-90816489
ATexonicDe novononsynonymous SNVNM_007351c.A367Tp.I123F12.418.247E-6Satterstrom2020 E
MMRN1     11969.p1chr4:
90874301-90874301
CTexonicMosaicnonsynonymous SNVNM_007351c.C3419Tp.P1140L20.72.479E-5Krupp2017 E
MMRN1     2-1143-003chr4:
91038088-91038088
GCintergenicDe novo--Yuen2017 G
MMRN1     iHART1857chr4:
90872755-90872759
GAGGAGexonicPaternalframeshift deletionNM_007351c.3119_3122delp.E1040fs--Ruzzo2019 G
MMRN1     AU3506303chr4:
91046386-91046386
TCintergenicDe novo--Yuen2017 G
MMRN1     iHART1859chr4:
90872755-90872759
GAGGAGexonicPaternalframeshift deletionNM_007351c.3119_3122delp.E1040fs--Ruzzo2019 G
MMRN1     AU1894304chr4:
90967087-90967087
AGintergenicDe novo--Yuen2017 G
MMRN1     2-1355-004chr4:
90814178-90814178
AGintergenicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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