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Results for "ZMIZ2"

Variant Events: 14

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
ZMIZ2     iHART2974chr7:
44797678-44797678
CTexonicMaternalstopgainNM_174929
NM_001300959
NM_031449
c.C784T
c.C688T
c.C784T
p.R262X
p.R230X
p.R262X
32.08.858E-6Ruzzo2019 G
ZMIZ2     PN400306chr7:
44805118-44805118
GGCexonicUnknownframeshift insertionNM_174929
NM_001300959
NM_031449
c.2105dupC
c.2009dupC
c.2183dupC
p.A702fs
p.A670fs
p.A728fs
-2.0E-4Leblond2019 E
ZMIZ2     PN400330chr7:
44805118-44805118
GGCexonicUnknownframeshift insertionNM_174929
NM_001300959
NM_031449
c.2105dupC
c.2009dupC
c.2183dupC
p.A702fs
p.A670fs
p.A728fs
-2.0E-4Leblond2019 E
ZMIZ2     14420.p1chr7:
44806024-44806024
CTexonicDe novononsynonymous SNVNM_174929
NM_001300959
NM_031449
c.C2339T
c.C2243T
c.C2417T
p.A780V
p.A748V
p.A806V
13.93-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ZMIZ2     PN400396chr7:
44805118-44805118
GGCexonicUnknownframeshift insertionNM_174929
NM_001300959
NM_031449
c.2105dupC
c.2009dupC
c.2183dupC
p.A702fs
p.A670fs
p.A728fs
-2.0E-4Leblond2019 E
ZMIZ2     SJD_34chr7:
44802861-44802861
GAexonicMaternalnonsynonymous SNVNM_174929
NM_001300959
NM_031449
c.G1631A
c.G1535A
c.G1709A
p.R544Q
p.R512Q
p.R570Q
22.53.32E-5Toma2013 E
ZMIZ2     PN400484chr7:
44805118-44805118
GGCexonicUnknownframeshift insertionNM_174929
NM_001300959
NM_031449
c.2105dupC
c.2009dupC
c.2183dupC
p.A702fs
p.A670fs
p.A728fs
-2.0E-4Leblond2019 E
ZMIZ2     iHART2972chr7:
44797678-44797678
CTexonicMaternalstopgainNM_174929
NM_001300959
NM_031449
c.C784T
c.C688T
c.C784T
p.R262X
p.R230X
p.R262X
32.08.858E-6Ruzzo2019 G
ZMIZ2     iHART2970chr7:
44797678-44797678
CTexonicMaternalstopgainNM_174929
NM_001300959
NM_031449
c.C784T
c.C688T
c.C784T
p.R262X
p.R230X
p.R262X
32.08.858E-6Ruzzo2019 G
ZMIZ2     3-0140-000chr7:
44833375-44833375
CAintergenicDe novo--Yuen2017 G
ZMIZ2     2-1086-003chr7:
44791143-44791143
TGintronicDe novo--Yuen2017 G
ZMIZ2     230-10-113219chr7:
44800035-44800035
CTexonicDe novosynonymous SNVNM_174929
NM_001300959
NM_031449
c.C1005T
c.C909T
c.C1083T
p.S335S
p.S303S
p.S361S
--Satterstrom2020 E
ZMIZ2     PN400261chr7:
44805118-44805118
GGCexonicUnknownframeshift insertionNM_174929
NM_001300959
NM_031449
c.2105dupC
c.2009dupC
c.2183dupC
p.A702fs
p.A670fs
p.A728fs
-2.0E-4Leblond2019 E
ZMIZ2     7-0059-003chr7:
44819009-44819009
CTintergenicDe 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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