Variant Results

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Results for "MMP8"

Variant Events: 18

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

SSC05077

chr11:
102593283-102593283

G

A

exonic

De novo

nonsynonymous SNV

NM_002424
NM_001304441
NM_001304442

c.C224T
c.C155T
c.C155T

p.T75M
p.T52M
p.T52M

32.0

Fu2022 E
Lim2017 E
Trost2022 G

MMP8

1-0936-003

chr11:
102586914-102586914

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MMP8

MSSNG00221-003

chr11:
102584682-102584682

C

G

intronic

De novo

-

-

Trost2022 G

MMP8

AU047704

chr11:
102610537-102610537

A

G

intergenic

De novo

-

-

Yuen2017 G

MMP8

7-0024-003

chr11:
102602086-102602086

A

G

intergenic

De novo

-

-

Yuen2017 G

MMP8

12534.p1

chr11:
102593283-102593283

G

A

exonic

De novo

nonsynonymous SNV

NM_002424
NM_001304441
NM_001304442

c.C224T
c.C155T
c.C155T

p.T75M
p.T52M
p.T52M

32.0

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MMP8

MT_160

chr11:
102589250-102589250

G

A

exonic

Maternal

nonsynonymous SNV

NM_002424
NM_001304441
NM_001304442

c.C679T
c.C610T
c.C610T

p.H227Y
p.H204Y
p.H204Y

15.11

Toma2013 E

MMP8

2-1526-004

chr11:
102637908-102637908

G

A

intergenic

De novo

-

-

Yuen2017 G

MMP8

REACH000555

chr11:
102590755-102590755

T

G

intronic

De novo

-

-

Trost2022 G

MMP8

Uddin2014:37

chr11:
102593283-102593283

G

A

exonic

De novo

nonsynonymous SNV

NM_002424
NM_001304441
NM_001304442

c.C224T
c.C155T
c.C155T

p.T75M
p.T52M
p.T52M

32.0

Uddin2014 E

MMP8

AU4007302

chr11:
102589147-102589147

T

TAG

exonic

Maternal

frameshift insertion

NM_002424
NM_001304441
NM_001304442

c.781_782insCT
c.712_713insCT
c.712_713insCT

p.Y261fs
p.Y238fs
p.Y238fs

-

Cirnigliaro2023 G

MMP8

mAGRE4803

chr11:
102587151-102587151

C

T

splicing

Unknown

splicing

13.49

Cirnigliaro2023 G

MMP8

mAGRE5555

chr11:
102584484-102584484

C

T

splicing

Maternal

splicing

9.285

Cirnigliaro2023 G

MMP8

iHART1432

chr11:
102584484-102584484

C

T

splicing

Paternal

splicing

9.285

Ruzzo2019 G

MMP8

mAGRE4099

chr11:
102584484-102584484

C

T

splicing

Paternal

splicing

9.285

Cirnigliaro2023 G

MMP8

iHART1433

chr11:
102584484-102584484

C

T

splicing

Paternal

splicing

9.285

Ruzzo2019 G

MMP8

mAGRE1433

chr11:
102584484-102584484

C

T

splicing

Paternal

splicing

9.285

Cirnigliaro2023 G

MMP8

mAGRE1432

chr11:
102584484-102584484

C

T

splicing

Paternal

splicing

9.285

Cirnigliaro2023 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
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