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Results for "ZNF440"

Variant Events: 6

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
ZNF440     1-0225-003chr19:
11937864-11937864
AGintronicDe novo--Yuen2017 G
ZNF440     3-0446-000 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2016 G
Yuen2017 G
ZNF440     AU073006chr19:
11953867-11953867
CTintergenicDe novo--Yuen2017 G
ZNF440     JASD_Fam0060chr19:
11941128-11941128
ATexonicDe novononsynonymous SNVNM_152357c.A34Tp.N12Y12.29-Takata2018 E
ZNF440     MT_109chr19:
11943225-11943225
CTexonicPaternalstopgainNM_152357c.C1234Tp.R412X16.940.0024Toma2013 E
ZNF440     AU4122301chr19:
11966787-11966787
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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