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Results for "ZNF510"

Variant Events: 8

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
ZNF510     7-0369-003chr9:
99536772-99536772
CTintronicDe novo--Trost2022 G
ZNF510     SJD_61.3chr9:
99518530-99518530
CAUTR3De novo--Trost2022 G
ZNF510     mAGRE1944chr9:
99537130-99537130
TCsplicingMaternalsplicing10.131.0E-4Cirnigliaro2023 G
ZNF510     mAGRE2020chr9:
99522256-99522256
CAexonicMaternalstopgainNM_001314060
NM_001314059
NM_014930
c.G670T
c.G856T
c.G856T
p.E224X
p.E286X
p.E286X
40.0-Cirnigliaro2023 G
ZNF510     2-1364-003chr9:
99536194-99536194
CTintronicDe novo--Yuen2017 G
ZNF510     mAGRE2017chr9:
99522256-99522256
CAexonicMaternalstopgainNM_001314060
NM_001314059
NM_014930
c.G670T
c.G856T
c.G856T
p.E224X
p.E286X
p.E286X
40.0-Cirnigliaro2023 G
ZNF510     72-1397chr9:
99522256-99522256
CAexonicInheritedstopgainNM_001314060
NM_001314059
NM_014930
c.G670T
c.G856T
c.G856T
p.E224X
p.E286X
p.E286X
40.0-Patowary2019 E
ZNF510     mAGRE2016chr9:
99522256-99522256
CAexonicMaternalstopgainNM_001314060
NM_001314059
NM_014930
c.G670T
c.G856T
c.G856T
p.E224X
p.E286X
p.E286X
40.0-Cirnigliaro2023 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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