or
or
Exact

Results for "ZMIZ2"

Variant Events: 23

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
Trost2022 G
Zhou2022 GE
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     mAGRE2974chr7:
44797678-44797678		CTexonicMaternalstopgainNM_174929
NM_001300959
NM_031449		c.C784T
c.C688T
c.C784T		p.R262X
p.R230X
p.R262X		32.08.858E-6Cirnigliaro2023 G
ZMIZ2     SP0128947chr7:
44802456-44802456		TGintronicDe novo--Fu2022 E
ZMIZ2     mAGRE2972chr7:
44797678-44797678		CTexonicMaternalstopgainNM_174929
NM_001300959
NM_031449		c.C784T
c.C688T
c.C784T		p.R262X
p.R230X
p.R262X		32.08.858E-6Cirnigliaro2023 G
ZMIZ2     mAGRE2970chr7:
44797678-44797678		CTexonicMaternalstopgainNM_174929
NM_001300959
NM_031449		c.C784T
c.C688T
c.C784T		p.R262X
p.R230X
p.R262X		32.08.858E-6Cirnigliaro2023 G
ZMIZ2     3-0140-000chr7:
44833375-44833375		CAintergenicDe novo--Yuen2017 G
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-Fu2022 E
ZMIZ2     5-0097-003chr7:
44805534-44805534		AGintronicDe novo--Trost2022 G
ZMIZ2     MSSNG00017-004chr7:
44806906-44806906		CTintronicDe novo--Trost2022 G
ZMIZ2     AU076509chr7:
44799223-44799223		GAintronicDe novo--Trost2022 G
ZMIZ2     2-1086-003chr7:
44791143-44791143		TGintronicDe novo--Trost2022 G
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		--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ZMIZ2     2-1692-003chr7:
44805135-44805137		GCATTexonicDe novoframeshift substitutionNM_174929
NM_001300959
NM_031449		c.2121_2123TT
c.2025_2027TT
c.2199_2201TT		N/A
N/A
N/A		--Trost2022 G
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

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us