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Results for "ZAN"

Variant Events: 10

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
ZAN     iHART3017chr7:
100346026-100346028
CTGCexonicMaternalunknown-9.226E-5Ruzzo2019 G
ZAN     iHART2909chr7:
100369644-100369644
GAsplicingPaternalsplicing16.171.0E-4Ruzzo2019 G
ZAN     ASDFI_1124chr7:
100391819-100391819
CAexonicDe novounknown--Lim2017 E
ZAN     iHART2670chr7:
100361511-100361528
CGGCTGGTCGACACTCATCexonicPaternalunknown--Ruzzo2019 G
ZAN     13675.p1chr7:
100388642-100388642
TCexonicDe novounknown6.842-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
ZAN     Cukier2014:17122chr7:
100346094-100346094
GAsplicingUnknownsplicing13.240.0361Cukier2014 E
ZAN     iHART2086chr7:
100382373-100382373
CTexonicPaternalunknown59.01.672E-5Ruzzo2019 G
ZAN     iHART2908chr7:
100369644-100369644
GAsplicingPaternalsplicing16.171.0E-4Ruzzo2019 G
ZAN     647-04-102022chr7:
100388522-100388522
GAintronicDe novo--Satterstrom2020 E
ZAN     iHART2635chr7:
100390055-100390055
CTexonicMaternalunknown44.08.42E-6Ruzzo2019 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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