Variant Results

or

Results for "MPDZ"

Variant Events: 27

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

MPDZ

AU0786305

chr9:
13303846-13303846

A

T

intergenic

De novo

-

Yuen2017 G

MPDZ

AU3175302

chr9:
13208733-13208733

G

T

intronic

De novo

-

Yuen2017 G

MPDZ

AU2756306

chr9:
13352966-13352966

T

C

intergenic

De novo

-

Yuen2017 G

MPDZ

AU3911301

chr9:
13280617-13280617

G

A

intergenic

De novo

-

Yuen2017 G

MPDZ

12290.p1

chr9:
13126602-13126602

G

A

intronic

De novo

-

2.787E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

MPDZ

1-0269-003

chr9:
13196415-13196415

T

C

intronic

De novo

-

Yuen2017 G

MPDZ

7-0197-003

chr9:
13322457-13322457

C

T

intergenic

De novo

-

Yuen2017 G

MPDZ

AU1995302

chr9:
13159063-13159063

A

G

intronic

De novo

-

Yuen2017 G

MPDZ

1-0507-003

chr9:
13207453-13207453

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MPDZ

2-1066-003

chr9:
13365906-13365906

G

A

intergenic

De novo

-

Yuen2017 G

MPDZ

2-1381-003

chr9:
13193520-13193520

A

T

intronic

De novo

-

Yuen2017 G

MPDZ

1-0994-003

chr9:
13203782-13203796

AAGAGAGAGAGAGAG

AAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

MPDZ

iHART2523

chr9:
13113944-13113944

G

C

exonic

Paternal

stopgain

NM_001261407
NM_001261406
NM_003829

c.C5357G
c.C5444G
c.C5456G

p.S1786X
p.S1815X
p.S1819X

36.0

-

Ruzzo2019 G

MPDZ

AU3765303

chr9:
13357987-13357987

T

C

intergenic

De novo

-

Yuen2017 G

MPDZ

iHART1734

chr9:
13107083-13107083

T

A

exonic

Paternal

stopgain

NM_001261407
NM_001261406
NM_003829

c.A5908T
c.A5995T
c.A6007T

p.K1970X
p.K1999X
p.K2003X

37.0

1.66E-5

Ruzzo2019 G

MPDZ

1-0417-003

chr9:
13281086-13281086

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MPDZ

iHART2613

chr9:
13168408-13168408

G

A

exonic

Paternal

stopgain

NM_001261406
NM_001261407
NM_003829

c.C3211T
c.C3211T
c.C3211T

p.R1071X
p.R1071X
p.R1071X

43.0

4.969E-5

Ruzzo2019 G

MPDZ

iHART1568

chr9:
13123199-13123199

G

A

exonic

Maternal

stopgain

NM_001261406
NM_001261407
NM_003829

c.C4807T
c.C4807T
c.C4906T

p.R1603X
p.R1603X
p.R1636X

37.0

-

Ruzzo2019 G

MPDZ

2-1715-004

chr9:
13295700-13295700

G

A

intergenic

De novo

-

Yuen2017 G

MPDZ

DEASD_0355_001

chr9:
13140074-13140074

A

G

exonic

De novo

synonymous SNV

NM_001261406
NM_001261407
NM_003829

c.T3816C
c.T3816C
c.T3915C

p.F1272F
p.F1272F
p.F1305F

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MPDZ

10C107541

chr9:
13247770-13247770

C

T

exonic

De novo

nonsynonymous SNV

NM_001261406
NM_001261407
NM_003829

c.G47A
c.G47A
c.G47A

p.R16H
p.R16H
p.R16H

27.1

1.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

MPDZ

5088_child

chr9:
13247770-13247770

C

T

exonic

De novo

nonsynonymous SNV

NM_001261406
NM_001261407
NM_003829

c.G47A
c.G47A
c.G47A

p.R16H
p.R16H
p.R16H

27.1

1.0E-4

Neale2012 E

MPDZ

SP0083288

chr9:
13125217-13125217

C

A

exonic

De novo

nonsynonymous SNV

NM_001261406
NM_001261407
NM_003829

c.G4706T
c.G4706T
c.G4805T

p.R1569L
p.R1569L
p.R1602L

5.315

-

Fu2022 E

MPDZ

SP0049024

chr9:
13221469-13221469

A

G

exonic

De novo

synonymous SNV

NM_001261406
NM_001261407
NM_003829

c.T778C
c.T778C
c.T778C

p.L260L
p.L260L
p.L260L

-

Fu2022 E

MPDZ

A19

chr9:
13395910-13395910

T

C

intergenic

De novo

-

Wu2018 G

MPDZ

2-1254-003

chr9:
13194380-13194380

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MPDZ

1-0526-003

chr9:
13241418-13241422

ATTTC

A

intronic

De novo

-

Yuen2017 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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