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Results for "ZMIZ1"

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
ZMIZ1     1-0564-003chr10:
80843796-80843801
GCATGTGintronicDe novo--Yuen2017 G
ZMIZ1     1-0591-003chr10:
81086117-81086117
GTintergenicDe novo--Yuen2017 G
ZMIZ1     PN400551chr10:
81061948-81061948
GAexonicUnknownnonsynonymous SNVNM_020338c.G2104Ap.A702T36.0-Leblond2019 E
ZMIZ1     1-0279-004chr10:
80901557-80901557
ATintronicDe novo--Yuen2017 G
ZMIZ1     SSC02884chr10:
81066040-81066040
GAexonicDe novosynonymous SNVNM_020338c.G2607Ap.P869P-4.15E-5Lim2017 E
ZMIZ1     11194.p1chr10:
81041910-81041910
CTintronicDe novo--Turner2016 G
ZMIZ1     2-1189-003chr10:
80895683-80895683
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ZMIZ1     7-0103-003chr10:
81068189-81068189
GAintronicDe novo--Yuen2017 G
ZMIZ1     AU036203chr10:
81034922-81034922
CAintronicDe novo--Yuen2017 G
ZMIZ1     13023.p1chr10:
80919716-80919716
CTintronicDe novo--Turner2016 G
ZMIZ1     08C74853chr10:
81072514-81072514
CTUTR3De novo--Satterstrom2020 E
ZMIZ1     A24chr10:
81068554-81068554
CTintronicDe novo--Wu2018 G
ZMIZ1     Mahjani2021:56chr10:
81058884-81058884
AGexonicnonsynonymous SNVNM_020338c.A1744Gp.N582D35.0-Mahjani2021 E
ZMIZ1     AU3862305chr10:
80968731-80968731
GCintronicDe novo--Yuen2017 G
ZMIZ1     11090.p1chr10:
81066040-81066040
GAexonicDe novosynonymous SNVNM_020338c.G2607Ap.P869P-4.15E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ZMIZ1     AU4263304chr10:
80833080-80833080
GAintronicDe novo--Yuen2017 G
ZMIZ1     5G257chr10:
81072363-81072363
CTintronicDe novo-1.649E-5Satterstrom2020 E
ZMIZ1     AU076508chr10:
81104435-81104435
TCintergenicDe novo--Yuen2017 G
ZMIZ1     1-0144-004chr10:
81033794-81033794
ACintronicDe novo--Yuen2017 G
ZMIZ1     PN400532chr10:
81061948-81061948
GAexonicUnknownnonsynonymous SNVNM_020338c.G2104Ap.A702T36.0-Leblond2019 E
ZMIZ1     80001101637chr10:
81070636-81070636
TTCCTCAintronicDe novo--Satterstrom2020 E
ZMIZ1     1-0104-004chr10:
81003809-81003818
TGCTCAGTCGTintronicDe novo--Yuen2017 G
ZMIZ1     1-0259-003chr10:
81077990-81077990
GAintergenicDe 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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