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Results for "MTUS1"

Variant Events: 19

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
MTUS1     5-0131-003chr8:
17629593-17629593
CAintronicDe novo--Yuen2017 G
MTUS1     AU3692301chr8:
17615025-17615025
TAintronicDe novo--Yuen2017 G
MTUS1     Kim2020:B26chr8:
17554905-17554905
GAUTR5De novo-2.491E-5Kim2020 E
MTUS1     2-1626-003chr8:
17566302-17566302
GCintronicDe novo--Yuen2017 G
MTUS1     AU079605chr8:
17643029-17643029
CTintronicDe novo--Yuen2017 G
MTUS1     2-1295-003chr8:
17643109-17643109
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MTUS1     13624.p1chr8:
17504519-17504519
GAexonicDe novononsynonymous SNVNM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924
c.C1069T
c.C1312T
c.C1006T
c.C3409T
c.C3571T
p.R357W
p.R438W
p.R336W
p.R1137W
p.R1191W
27.18.29E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
MTUS1     1-0213-004chr8:
17538140-17538140
TCintronicDe novo--Yuen2017 G
MTUS1     11521.p1chr8:
17612610-17612610
GCexonicMosaic, De novostopgainNM_001001924
NM_001001925
c.C707G
c.C707G
p.S236X
p.S236X
37.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MTUS1     Cukier2014:7663chr8:
17612686-17612686
ACexonicUnknownnonsynonymous SNVNM_001001924
NM_001001925
c.T631G
c.T631G
p.S211A
p.S211A
15.340.01Cukier2014 E
MTUS1     2-1295-003chr8:
17656650-17656650
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MTUS1     iHART1302chr8:
17503515-17503515
AATCTCexonicMaternalframeshift insertionNM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924
c.1230_1231insGAGA
c.1473_1474insGAGA
c.1167_1168insGAGA
c.3570_3571insGAGA
c.3732_3733insGAGA
p.S411fs
p.S492fs
p.S390fs
p.S1191fs
p.S1245fs
-8.516E-6Ruzzo2019 G
MTUS1     74-0075chr8:
17565339-17565339
ACintronicDe novo--Michaelson2012 G
MTUS1     1-0279-004chr8:
17512592-17512592
GAintronicDe novo--Yuen2017 G
MTUS1     3-0456-000chr8:
17557488-17557488
TGintronicDe novo--Yuen2017 G
MTUS1     AU007503chr8:
17565339-17565339
ACintronicDe novo--Yuen2017 G
MTUS1     1-0321-004chr8:
17590257-17590257
TCintronicDe novo--Yuen2017 G
MTUS1     2-1720-003chr8:
17566249-17566249
CTintronicDe novo--Yuen2017 G
MTUS1     3-0456-000Bchr8:
17557488-17557488
TGintronicDe 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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