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Results for "MIOS"

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
MIOS     1-0092-004chr7:
7613252-7613252
TAexonicDe novononsynonymous SNVNM_019005c.T1146Ap.N382K1.375-Yuen2015 G
Yuen2017 G
MIOS     iHART3087chr7:
7646706-7646706
GTexonicMaternalstopgainNM_019005c.G2611Tp.E871X43.0-Ruzzo2019 G
MIOS     AU4392302chr7:
7632141-7632141
CAintronicDe novo--Yuen2017 G
MIOS     AU0039303chr7:
7614946-7614946
GAintronicDe novo--Yuen2017 G
MIOS     14153.p1chr7:
7625250-7625250
CAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Turner2016 G
MIOS     2-1561-003chr7:
7665856-7665856
TCintergenicDe novo--Yuen2017 G
MIOS     2-1605-004chr7:
7652838-7652838
AGintergenicDe novo--Yuen2017 G
MIOS     13582.p1chr7:
7625488-7625488
TCintronicDe novo--Satterstrom2020 E
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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