Variant Results

or

or

Results for "MTMR3"

Variant Events: 15

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

MTMR3

14011.p1

chr22:
30409469-30409469

A

T

exonic

De novo

nonsynonymous SNV

NM_021090
NM_153050
NM_153051

c.A1442T
c.A1442T
c.A1442T

p.D481V
p.D481V
p.D481V

27.8

Ji2016 E
Krumm2015 E

MTMR3

AU062204

chr22:
30388335-30388335

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MTMR3

SP0128192

chr22:
30421743-30421743

A

G

exonic

nonsynonymous SNV

NM_153051
NM_021090
NM_153050

c.A3439G
c.A3550G
c.A3466G

p.S1147G
p.S1184G
p.S1156G

18.38

-

Zhou2022 GE

MTMR3

742_2013

chr22:
30415537-30415537

G

A

exonic

De novo

nonsynonymous SNV

NM_021090
NM_153050
NM_153051

c.G1889A
c.G1889A
c.G1889A

p.R630Q
p.R630Q
p.R630Q

36.0

-

Fu2022 E

MTMR3

5-0065-003

chr22:
30405112-30405112

C

T

exonic

De novo

nonsynonymous SNV

NM_021090
NM_153050
NM_153051

c.C1115T
c.C1115T
c.C1115T

p.P372L
p.P372L
p.P372L

24.4

-

Yuen2017 G
Zhou2022 GE

MTMR3

AU2162302

chr22:
30292607-30292607

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MTMR3

2-1093-005

chr22:
30327599-30327599

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MTMR3

128664023073-C

chr22:
30398761-30398761

T

G

intronic

De novo

-

-

Fu2022 E

MTMR3

1-0973-003

chr22:
30367904-30367904

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MTMR3

10-1155-003

chr22:
30350006-30350006

G

A

intronic

De novo

-

-

Trost2022 G

MTMR3

AU3371303

chr22:
30286547-30286547

G

A

intronic

De novo

-

-

Trost2022 G

MTMR3

SP0144571

chr22:
30374921-30374921

G

C

intronic

-

-

Zhou2022 GE

MTMR3

iHART1643

chr22:
30353078-30353078

G

C

splicing

Paternal

splicing

-

-

Ruzzo2019 G

MTMR3

1-0745-003

chr22:
30397358-30397358

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MTMR3

mAGRE1643

chr22:
30353078-30353078

G

C

splicing

Paternal

splicing

-

-

Cirnigliaro2023 G

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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