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Results for "MMP8"

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
MMP8     MT_160chr11:
102589250-102589250
GAexonicMaternalnonsynonymous SNVNM_002424
NM_001304441
NM_001304442
c.C679T
c.C610T
c.C610T
p.H227Y
p.H204Y
p.H204Y
15.117.448E-5Toma2013 E
MMP8     2-1526-004chr11:
102637908-102637908
GAintergenicDe novo--Yuen2017 G
MMP8     SSC05077chr11:
102593283-102593283
GAexonicDe novononsynonymous SNVNM_002424
NM_001304441
NM_001304442
c.C224T
c.C155T
c.C155T
p.T75M
p.T52M
p.T52M
32.08.239E-6Lim2017 E
MMP8     1-0936-003chr11:
102586914-102586914
GAintronicDe novo--Yuen2017 G
MMP8     Uddin2014:37chr11:
102593283-102593283
GAexonicDe novononsynonymous SNVNM_002424
NM_001304441
NM_001304442
c.C224T
c.C155T
c.C155T
p.T75M
p.T52M
p.T52M
32.08.239E-6Uddin2014 E
MMP8     AU047704chr11:
102610537-102610537
AGintergenicDe novo--Yuen2017 G
MMP8     iHART1432chr11:
102584484-102584484
CTsplicingPaternalsplicing9.2856.0E-4Ruzzo2019 G
MMP8     7-0024-003chr11:
102602086-102602086
AGintergenicDe novo--Yuen2017 G
MMP8     iHART1433chr11:
102584484-102584484
CTsplicingPaternalsplicing9.2856.0E-4Ruzzo2019 G
MMP8     12534.p1chr11:
102593283-102593283
GAexonicDe novononsynonymous SNVNM_002424
NM_001304441
NM_001304442
c.C224T
c.C155T
c.C155T
p.T75M
p.T52M
p.T52M
32.08.239E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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