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Results for "ZRANB3"

Variant Events: 26

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
ZRANB3     AU024606chr2:
136118032-136118032
TAintronicDe novo--Yuen2017 G
ZRANB3     1-0395-003chr2:
136152474-136152474
CTintronicDe novo--Yuen2017 G
ZRANB3     2-1567-004chr2:
136193811-136193811
TAintronicDe novo--Yuen2017 G
ZRANB3     1-0173-004chr2:
136098796-136098796
CTintronicDe novo--Yuen2017 G
ZRANB3     AU3918302chr2:
136081192-136081192
CTintronicDe novo--Yuen2017 G
ZRANB3     1-0339-003chr2:
136107533-136107533
GAintronicDe novo-8.443E-6Yuen2017 G
ZRANB3     2-0244-003chr2:
136272882-136272882
CTintronicDe novo--Yuen2017 G
ZRANB3     AU4122301chr2:
136166743-136166743
GAintronicDe novo--Yuen2017 G
ZRANB3     1-0395-004chr2:
136152474-136152474
CTintronicDe novo--Yuen2017 G
ZRANB3     1-1004-003chr2:
136173814-136173814
AGintronicDe novo--Yuen2017 G
ZRANB3     AU4012302chr2:
136133340-136133340
GAintronicDe novo--Yuen2017 G
ZRANB3     1-0286-004chr2:
136040897-136040897
CTintronicDe novo--Yuen2017 G
ZRANB3     AU0452304chr2:
136266382-136266382
AGintronicDe novo--Yuen2017 G
ZRANB3     AU050704chr2:
136185083-136185083
AGintronicDe novo--Yuen2017 G
ZRANB3     2-1164-003chr2:
136183944-136183966
CACAACAACAACAACAACAACAACACAACAACAACAACAACAAintronicDe novo--Yuen2017 G
ZRANB3     1-0144-005chr2:
136046636-136046636
CTintronicDe novo--Yuen2017 G
ZRANB3     1-0139-005chr2:
136079505-136079506
GAGintronicDe novo--Yuen2017 G
ZRANB3     14570.p1chr2:
135982012-135982012
AGexonicDe novononsynonymous SNVNM_001286568
NM_032143
NM_001286569
c.T2228C
c.T2234C
c.T872C
p.I743T
p.I745T
p.I291T
22.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ZRANB3     11446.p1chr2:
136072939-136072939
GAexonicDe novononsynonymous SNVNM_001286568
NM_032143
c.C839T
c.C839T
p.A280V
p.A280V
13.59-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ZRANB3     5-0055-003chr2:
136125785-136125785
AATCATintronicDe novo--Yuen2017 G
ZRANB3     5-0140-003chr2:
136056930-136056930
CTintronicDe novo--Yuen2017 G
ZRANB3     Lim2017:68576chr2:
136072939-136072939
GAexonicDe novononsynonymous SNVNM_001286568
NM_032143
c.C839T
c.C839T
p.A280V
p.A280V
13.59-Lim2017 E
ZRANB3     1-0493-003chr2:
136263631-136263631
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ZRANB3     Lim2017:36902chr2:
135982012-135982012
AGexonicDe novononsynonymous SNVNM_001286568
NM_032143
NM_001286569
c.T2228C
c.T2234C
c.T872C
p.I743T
p.I745T
p.I291T
22.2-Lim2017 E
ZRANB3     AU1860301chr2:
136082131-136082131
TCintronicDe novo--Yuen2017 G
ZRANB3     AU011903chr2:
136174313-136174313
CTintronicDe 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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