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Results for "MTO1"

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
MTO1     11753.p1chr6:
74192157-74192157
TGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MTO1     1-0484-003chr6:
74216677-74216689
GGGTGGATGACCTGintergenicDe novo--Yuen2017 G
MTO1     AU031003chr6:
74192453-74192453
TCintronicDe novo--Yuen2017 G
MTO1     1-0169-003chr6:
74216573-74216573
GAintergenicDe novo--Yuen2017 G
MTO1     SJD_49chr6:
74207618-74207618
CTexonicMaternalnonsynonymous SNVNM_012123
NM_001123226
NM_133645
c.C1916T
c.C2036T
c.C1991T
p.T639M
p.T679M
p.T664M
17.373.338E-5Toma2013 E
MTO1     iHART2966chr6:
74175968-74175969
GAGexonicPaternalframeshift deletionNM_001123226
NM_012123
NM_133645
c.255delA
c.255delA
c.255delA
p.G85fs
p.G85fs
p.G85fs
--Ruzzo2019 G
MTO1     1-0054-004chr6:
74209670-74209670
GAintronicDe novo--Yuen2017 G
MTO1     iHART2967chr6:
74175968-74175969
GAGexonicPaternalframeshift deletionNM_001123226
NM_012123
NM_133645
c.255delA
c.255delA
c.255delA
p.G85fs
p.G85fs
p.G85fs
--Ruzzo2019 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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