Variant Results

or

Results for "MIA2"

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

MIA2

111310

chr14:
39706237-39706237

G

T

exonic

nonsynonymous SNV

NM_054024

c.G227T

p.R76M

21.6

2.508E-5

Woodbury-Smith2022 E

MIA2

1-0054-004

chr14:
39721593-39721593

A

G

intronic

De novo

-

Yuen2017 G

MIA2

2-1508-003

chr14:
39760249-39760249

T

C

exonic

De novo

synonymous SNV

NM_001247988
NM_001247989
NM_001247990
NM_005930
NM_203354
NM_203355
NM_203356

c.T246C
c.T333C
c.T93C
c.T333C
c.T297C
c.T333C
c.T246C

p.S82S
p.S111S
p.S31S
p.S111S
p.S99S
p.S111S
p.S82S

-

Yuen2017 G

MIA2

iHART2730

chr14:
39716691-39716692

CA

C

exonic

Maternal

frameshift deletion

NM_054024

c.914delA

p.Q305fs

-

4.137E-5

Ruzzo2019 G

MIA2

1-0458-003

chr14:
39811677-39811677

T

C

intronic

De novo

-

Yuen2017 G

MIA2

iHART2731

chr14:
39716691-39716692

CA

C

exonic

Maternal

frameshift deletion

NM_054024

c.914delA

p.Q305fs

-

4.137E-5

Ruzzo2019 G

MIA2

1-0559-005

chr14:
39749812-39749812

C

A

intronic

De novo

-

Yuen2017 G

MIA2

iHART2127

chr14:
39717264-39717264

G

T

exonic

Maternal

stopgain

NM_054024

c.G1486T

p.E496X

18.5

1.727E-5

Ruzzo2019 G

MIA2

iHART2261

chr14:
39716859-39716859

G

GA

exonic

Paternal

frameshift insertion

NM_054024

c.1082dupA

p.E361fs

-

7.486E-5

Ruzzo2019 G

MIA2

2-1174-006

chr14:
39811257-39811257

T

A

intronic

De novo

-

Yuen2017 G

MIA2

2-0223-004

chr14:
39806688-39806688

G

A

intronic

De novo

-

Yuen2017 G

MIA2

AU072505

chr14:
39736641-39736641

A

G

UTR5

De novo

-

Yuen2017 G

MIA2

2-1174-005B

chr14:
39811614-39811614

G

A

intronic

De novo

-

Yuen2017 G

MIA2

2-1174-005B

chr14:
39811257-39811257

T

A

intronic

De novo

-

Yuen2017 G

MIA2

DEASD_0282_001

chr14:
39777734-39777734

A

G

exonic

De novo

nonsynonymous SNV

NM_001247988
NM_001247989
NM_001247990
NM_005930
NM_203354
NM_203355
NM_203356

c.A1049G
c.A1151G
c.A911G
c.A1136G
c.A1100G
c.A1136G
c.A1049G

p.Q350R
p.Q384R
p.Q304R
p.Q379R
p.Q367R
p.Q379R
p.Q350R

17.8

1.0E-4

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

MIA2

AU4286302

chr14:
39729570-39729570

C

T

intergenic

De novo

-

Yuen2017 G

MIA2

iHART2323

chr14:
39716607-39716607

C

T

exonic

Paternal

stopgain

NM_054024

c.C829T

p.Q277X

13.09

-

Ruzzo2019 G

MIA2

iHART2322

chr14:
39716607-39716607

C

T

exonic

Paternal

stopgain

NM_054024

c.C829T

p.Q277X

13.09

-

Ruzzo2019 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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