Variant Results

or

Results for "MTMR9"

Variant Events: 30

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

MTMR9

AU021204

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MTMR9

MT_58.3

chr8:
11147418-11147418

C

A

intronic

De novo

-

Trost2022 G

MTMR9

10-0006-003

chr8:
11153031-11153031

A

G

intronic

De novo

-

Trost2022 G

MTMR9

7-0252-003

chr8:
11146682-11146686

AAAAC

A

intronic

De novo

-

Trost2022 G

MTMR9

PN400178

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400484

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400393

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400386

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

2-1514-003

chr8:
11183986-11183986

T

TGTTGTG

UTR3

De novo

-

Trost2022 G

MTMR9

2-1796-003

chr8:
11185017-11185017

T

C

UTR3

De novo

-

Trost2022 G

MTMR9

PN400514

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

AU2192301

chr8:
11162398-11162398

C

G

exonic

De novo

nonsynonymous SNV

NM_015458

c.C466G

p.P156A

8.16

8.0E-4

Trost2022 G

MTMR9

MSSNG00035-003

chr8:
11170119-11170119

T

C

intronic

De novo

-

Trost2022 G

MTMR9

PN400546

chr8:
11172536-11172536

G

C

exonic

Inherited, Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E
Leblond2019 E

MTMR9

SSC05077

chr8:
11172535-11172535

C

A

exonic

De novo

nonsynonymous SNV

NM_015458

c.C1075A

p.R359S

16.46

1.648E-5

Fu2022 E
Trost2022 G

MTMR9

1-0494-003

chr8:
11159640-11159640

T

G

intronic

De novo

-

Yuen2017 G

MTMR9

12534.p1

chr8:
11172535-11172535

C

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_015458

c.C1075A

p.R359S

16.46

1.648E-5

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MTMR9

PN400474

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400477

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400252

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400431

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400407

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400534

chr8:
11172536-11172536

G

C

exonic

Inherited, Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E
Leblond2019 E

MTMR9

2-0003-004

chr8:
11154712-11154712

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTMR9

1-0494-003A

chr8:
11159640-11159640

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTMR9

2-1279-003

chr8:
11185606-11185606

A

G

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

MTMR9

PN400352

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400124

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400186

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

MTMR9

PN400548

chr8:
11172536-11172536

G

C

exonic

Unknown

nonsynonymous SNV

NM_015458

c.G1076C

p.R359P

20.7

0.0031

Leblond2019 E

Source Variant Information

, -

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 notes	View
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