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Results for "HS3ST3A1"

Variant Events: 30

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
HS3ST3A1     2-1314-003chr17:
13421620-13421620
ATintronicDe novo--Yuen2016 G
HS3ST3A1     2-0098-003chr17:
13860682-13860682
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
HS3ST3A1     2-1399-003chr17:
13867287-13867287
AGintergenicDe novo--Yuen2017 G
HS3ST3A1     AU4013303chr17:
13658442-13658442
ACintergenicDe novo--Yuen2017 G
HS3ST3A1     AU3907302chr17:
13771804-13771804
GCintergenicDe novo--Yuen2017 G
HS3ST3A1     1-0565-003chr17:
13401790-13401790
CAintronicDe novo--Yuen2017 G
HS3ST3A1     2-1364-003chr17:
13539664-13539664
GCintergenicDe novo--Yuen2017 G
HS3ST3A1     13148.p1chr17:
13891654-13891654
TTAintergenicDe novo--Werling2018 G
HS3ST3A1     AU076508chr17:
13643298-13643298
CAintergenicDe novo--Yuen2017 G
HS3ST3A1     2-0135-004chr17:
13583506-13583506
GCintergenicDe novo--Yuen2017 G
HS3ST3A1     1-0567-003chr17:
13902468-13902468
CGintergenicDe novo--Yuen2017 G
HS3ST3A1     AU3716302chr17:
13846527-13846527
TCintergenicDe novo--Yuen2017 G
HS3ST3A1     1-0160-004chr17:
13630512-13630512
CAintergenicDe novo--Yuen2017 G
HS3ST3A1     1-0051-005chr17:
13617743-13617743
TTTGGTTGTAAintergenicDe novo--Yuen2017 G
HS3ST3A1     11561.p1chr17:
13399996-13399996
TGexonicDe novononsynonymous SNVNM_006042c.A739Cp.T247P24.4-Ji2016 E
Krumm2015 E
Satterstrom2020 E
HS3ST3A1     2-0068-003chr17:
13531763-13531763
GAintergenicDe novo--Yuen2017 G
HS3ST3A1     2-1107-003chr17:
13463554-13463554
CTintronicDe novo--Yuen2017 G
HS3ST3A1     2-1155-003chr17:
13792334-13792334
CTintergenicDe novo--Yuen2017 G
HS3ST3A1     AU2950302chr17:
13632964-13632964
TCintergenicDe novo--Yuen2017 G
HS3ST3A1     AU2950302chr17:
13908238-13908238
TCintergenicDe novo--Yuen2017 G
HS3ST3A1     AU4234302chr17:
13563113-13563113
CTintergenicDe novo--Yuen2017 G
HS3ST3A1     AU2000302chr17:
13407588-13407588
CTintronicDe novo--Yuen2017 G
HS3ST3A1     2-0307-003chr17:
13757488-13757488
AGintergenicDe novo--Yuen2017 G
HS3ST3A1     2-1425-003chr17:
13531763-13531763
GAintergenicDe novo--Yuen2017 G
HS3ST3A1     5-0105-003chr17:
13742120-13742120
CGintergenicDe novo--Yuen2017 G
HS3ST3A1     SP0014959chr17:
13400033-13400033
CGexonicMosaic, De novononsynonymous SNVNM_006042c.G702Cp.K234N17.82-Feliciano2019 E
Feliciano2019 E
HS3ST3A1     1-0099-003chr17:
13609338-13609338
GAintergenicDe novo--Yuen2017 G
HS3ST3A1     A4chr17:
13588285-13588285
GCintergenicDe novo--Wu2018 G
HS3ST3A1     7-0161-003chr17:
13779568-13779568
GAintergenicDe novo--Yuen2017 G
HS3ST3A1     1-0556-003chr17:
13465055-13465055
ACintronicDe 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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