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Results for "MPDZ"

Variant Events: 25

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     AU0786305chr9:
13303846-13303846
ATintergenicDe novo--Yuen2017 G
MPDZ     AU3175302chr9:
13208733-13208733
GTintronicDe novo--Yuen2017 G
MPDZ     AU2756306chr9:
13352966-13352966
TCintergenicDe novo--Yuen2017 G
MPDZ     AU3911301chr9:
13280617-13280617
GAintergenicDe novo--Yuen2017 G
MPDZ     12290.p1chr9:
13126602-13126602
GAintronicDe novo-2.787E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MPDZ     1-0269-003chr9:
13196415-13196415
TCintronicDe novo--Yuen2017 G
MPDZ     7-0197-003chr9:
13322457-13322457
CTintergenicDe novo--Yuen2017 G
MPDZ     AU1995302chr9:
13159063-13159063
AGintronicDe novo--Yuen2017 G
MPDZ     1-0507-003chr9:
13207453-13207453
CGintronicDe novo--Yuen2016 G
Yuen2017 G
MPDZ     2-1066-003chr9:
13365906-13365906
GAintergenicDe novo--Yuen2017 G
MPDZ     2-1381-003chr9:
13193520-13193520
ATintronicDe novo--Yuen2017 G
MPDZ     1-0994-003chr9:
13203782-13203796
AAGAGAGAGAGAGAGAAGAGAGAGAGAGintronicDe novo--Yuen2017 G
MPDZ     iHART2523chr9:
13113944-13113944
GCexonicPaternalstopgainNM_001261407
NM_001261406
NM_003829
c.C5357G
c.C5444G
c.C5456G
p.S1786X
p.S1815X
p.S1819X
36.0-Ruzzo2019 G
MPDZ     AU3765303chr9:
13357987-13357987
TCintergenicDe novo--Yuen2017 G
MPDZ     iHART1734chr9:
13107083-13107083
TAexonicPaternalstopgainNM_001261407
NM_001261406
NM_003829
c.A5908T
c.A5995T
c.A6007T
p.K1970X
p.K1999X
p.K2003X
37.01.66E-5Ruzzo2019 G
MPDZ     1-0417-003chr9:
13281086-13281086
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
MPDZ     iHART2613chr9:
13168408-13168408
GAexonicPaternalstopgainNM_001261406
NM_001261407
NM_003829
c.C3211T
c.C3211T
c.C3211T
p.R1071X
p.R1071X
p.R1071X
43.04.969E-5Ruzzo2019 G
MPDZ     iHART1568chr9:
13123199-13123199
GAexonicMaternalstopgainNM_001261406
NM_001261407
NM_003829
c.C4807T
c.C4807T
c.C4906T
p.R1603X
p.R1603X
p.R1636X
37.0-Ruzzo2019 G
MPDZ     2-1715-004chr9:
13295700-13295700
GAintergenicDe novo--Yuen2017 G
MPDZ     DEASD_0355_001chr9:
13140074-13140074
AGexonicDe novosynonymous SNVNM_001261406
NM_001261407
NM_003829
c.T3816C
c.T3816C
c.T3915C
p.F1272F
p.F1272F
p.F1305F
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MPDZ     10C107541chr9:
13247770-13247770
CTexonicDe novononsynonymous SNVNM_001261406
NM_001261407
NM_003829
c.G47A
c.G47A
c.G47A
p.R16H
p.R16H
p.R16H
27.11.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MPDZ     5088_childchr9:
13247770-13247770
CTexonicDe novononsynonymous SNVNM_001261406
NM_001261407
NM_003829
c.G47A
c.G47A
c.G47A
p.R16H
p.R16H
p.R16H
27.11.0E-4Neale2012 E
MPDZ     A19chr9:
13395910-13395910
TCintergenicDe novo--Wu2018 G
MPDZ     2-1254-003chr9:
13194380-13194380
TGintronicDe novo--Yuen2016 G
Yuen2017 G
MPDZ     1-0526-003chr9:
13241418-13241422
ATTTCAintronicDe novo--Yuen2017 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
Curation notesView
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