Variant Results

or

Results for "HS3ST3A1"

Variant Events: 34

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

2-1314-003

chr17:
13421620-13421620

A

T

intronic

De novo

-

Yuen2016 G

HS3ST3A1

2-0098-003

chr17:
13860682-13860682

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HS3ST3A1

2-1399-003

chr17:
13867287-13867287

A

G

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

AU4013303

chr17:
13658442-13658442

A

C

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

AU3907302

chr17:
13771804-13771804

G

C

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

1-0565-003

chr17:
13401790-13401790

C

A

intronic

De novo

-

Yuen2017 G

HS3ST3A1

2-1364-003

chr17:
13539664-13539664

G

C

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

SSC02501

chr17:
13399996-13399996

T

G

exonic

De novo

nonsynonymous SNV

NM_006042

c.A739C

p.T247P

24.4

-

Fu2022 E

HS3ST3A1

13148.p1

chr17:
13891654-13891654

T

TA

intergenic

De novo

-

Werling2018 G

HS3ST3A1

AU076508

chr17:
13643298-13643298

C

A

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

052-09-110820

chr17:
13400128-13400128

T

C

exonic

De novo

nonsynonymous SNV

NM_006042

c.A607G

p.M203V

13.34

-

Fu2022 E

HS3ST3A1

2-0135-004

chr17:
13583506-13583506

G

C

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

1-0567-003

chr17:
13902468-13902468

C

G

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

AU3716302

chr17:
13846527-13846527

T

C

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

1-0160-004

chr17:
13630512-13630512

C

A

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

1-0051-005

chr17:
13617743-13617743

T

TTGGTTGTAA

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

11561.p1

chr17:
13399996-13399996

T

G

exonic

De novo

nonsynonymous SNV

NM_006042

c.A739C

p.T247P

24.4

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E

HS3ST3A1

2-0068-003

chr17:
13531763-13531763

G

A

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

2-1107-003

chr17:
13463554-13463554

C

T

intronic

De novo

-

Yuen2017 G

HS3ST3A1

2-1155-003

chr17:
13792334-13792334

C

T

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

AU2950302

chr17:
13632964-13632964

T

C

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

AU2950302

chr17:
13908238-13908238

T

C

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

AU4234302

chr17:
13563113-13563113

C

T

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

AU2000302

chr17:
13407588-13407588

C

T

intronic

De novo

-

Yuen2017 G

HS3ST3A1

2-0307-003

chr17:
13757488-13757488

A

G

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

2-1425-003

chr17:
13531763-13531763

G

A

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

5-0105-003

chr17:
13742120-13742120

C

G

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

SP0014959

chr17:
13400033-13400033

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_006042

c.G702C

p.K234N

17.82

-

Feliciano2019 E
Feliciano2019 E

HS3ST3A1

1-0099-003

chr17:
13609338-13609338

G

A

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

SP0043250

chr17:
13399616-13399616

A

C

exonic

De novo

synonymous SNV

NM_006042

c.T1119G

p.P373P

-

Fu2022 E

HS3ST3A1

A4

chr17:
13588285-13588285

G

C

intergenic

De novo

-

Wu2018 G

HS3ST3A1

SP0029145

chr17:
13399616-13399616

A

C

exonic

De novo

synonymous SNV

NM_006042

c.T1119G

p.P373P

-

Fu2022 E

HS3ST3A1

7-0161-003

chr17:
13779568-13779568

G

A

intergenic

De novo

-

Yuen2017 G

HS3ST3A1

1-0556-003

chr17:
13465055-13465055

A

C

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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