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Results for "UST"

Variant Events: 24

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
UST     AU4029301chr6:
149223336-149223336
AGintronicDe novo--Yuen2017 G
UST     2-0070-004chr6:
149329455-149329467
GCCATTAAGTTTTGintronicDe novo--Yuen2017 G
UST     13332.p1chr6:
149395031-149395031
GAexonicMosaicnonsynonymous SNVNM_005715c.G1000Ap.V334M15.67-Dou2017 E
UST     AU060004chr6:
149205305-149205305
ACintronicDe novo--Yuen2017 G
UST     AU2333302chr6:
149365600-149365600
AGintronicDe novo--Yuen2017 G
UST     AU045514chr6:
149522487-149522487
CAintergenicDe novo--Yuen2017 G
UST     1-0965-003chr6:
149418469-149418469
GAintergenicDe novo--Yuen2017 G
UST     1-0547-003chr6:
149309871-149309871
CTintronicDe novo--Yuen2017 G
UST     1-0252-003chr6:
149159646-149159646
AATCintronicDe novo--Yuen2017 G
UST     2-1506-003chr6:
149324892-149324892
CTintronicDe novo--Yuen2017 G
UST     1-0513-003chr6:
149094752-149094752
ACintronicDe novo--Yuen2016 G
Yuen2017 G
UST     5-0055-004chr6:
149349975-149349975
TCintronicDe novo--Yuen2017 G
UST     AU3371301chr6:
149197117-149197117
TGintronicDe novo--Yuen2017 G
UST     2-1341-004chr6:
149116713-149116713
GAintronicDe novo--Yuen2017 G
UST     7-0253-005chr6:
149071458-149071458
CTintronicDe novo--Yuen2017 G
UST     1-0269-003chr6:
149086730-149086730
AGintronicDe novo--Yuen2017 G
UST     AU046703chr6:
149514539-149514539
GAintergenicDe novo--Yuen2017 G
UST     11475.p1chr6:
149274966-149274966
ATintronicDe novo-5.338E-5Satterstrom2020 E
UST     12529.p1chr6:
149376596-149376596
CGintronicDe novo--Turner2016 G
UST     2-1364-003chr6:
149188291-149188291
CTintronicDe novo--Yuen2017 G
UST     AU1668302chr6:
149489063-149489074
AATATATATATAAATATATATAintergenicDe novo--Yuen2017 G
UST     2-1299-003chr6:
149231114-149231116
CTGCintronicDe novo--Yuen2017 G
UST     12529.p1chr6:
149376406-149376406
CGintronicDe novo--Turner2016 G
UST     12871.p1chr6:
149219069-149219069
AGintronicDe novo--Wilfert2021 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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