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Results for "SIAH3"

Variant Events: 11

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
SIAH3     A9chr13:
46438067-46438067
CTintergenicDe novo--Wu2018 G
SIAH3     AU2029303chr13:
46470907-46470907
GAintergenicDe novo--Yuen2017 G
SIAH3     AU4246304chr13:
46458098-46458098
CAintergenicDe novo--Yuen2017 G
SIAH3     1-0531-003chr13:
46360103-46360103
TAintronicDe novo--Yuen2016 G
Yuen2017 G
SIAH3     AU2139303chr13:
46528473-46528474
CTCintergenicDe novo--Yuen2017 G
SIAH3     2-1526-003chr13:
46400638-46400638
AGintronicDe novo--Yuen2017 G
SIAH3     3-0140-000chr13:
46450072-46450072
CAintergenicDe novo--Yuen2017 G
SIAH3     1-0261-004chr13:
46510696-46510701
CCTTTTCintergenicDe novo--Yuen2017 G
SIAH3     60-2027chr13:
46387345-46387345
GAintronicDe novo--Michaelson2012 G
SIAH3     AU2029302chr13:
46470907-46470907
GAintergenicDe novo--Yuen2017 G
SIAH3     AU4487302chr13:
46423094-46423094
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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