Variant Results

or

Results for "HS6ST1"

Variant Events: 42

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

HS6ST1

2-0273-003

chr2:
129294532-129294532

G

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

PN400506

chr2:
129075939-129075939

T

A

exonic

Unknown

stopgain

NM_004807

c.A199T

p.K67X

37.0

0.0183

Leblond2019 E

HS6ST1

AU076705

chr2:
129217506-129217506

T

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

SP0002974

chr2:
129025783-129025783

G

A

exonic

De novo

nonsynonymous SNV

NM_004807

c.C1189T

p.R397C

15.74

4.633E-5

Feliciano2019 E

HS6ST1

2-0306-004

chr2:
129303746-129303746

A

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU3875301

chr2:
129305583-129305583

G

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU4103301

chr2:
129163062-129163062

A

G

intergenic

De novo

-

Yuen2017 G

HS6ST1

PN400464

chr2:
129075939-129075939

T

A

exonic

Unknown

stopgain

NM_004807

c.A199T

p.K67X

37.0

0.0183

Leblond2019 E

HS6ST1

1-0043-004

chr2:
129098837-129098837

G

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

PN400350

chr2:
129075939-129075939

T

A

exonic

Unknown

stopgain

NM_004807

c.A199T

p.K67X

37.0

0.0183

Leblond2019 E

HS6ST1

2-1645-003

chr2:
129437457-129437457

G

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU063004

chr2:
129024132-129024132

C

T

UTR3

De novo

-

Yuen2017 G

HS6ST1

1-0274-004

chr2:
129394313-129394313

G

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

PN400371

chr2:
129075939-129075939

T

A

exonic

Unknown

stopgain

NM_004807

c.A199T

p.K67X

37.0

0.0183

Leblond2019 E

HS6ST1

5-0147-003

chr2:
129243620-129243622

GAC

G

intergenic

De novo

-

Yuen2017 G

HS6ST1

12011.p1

chr2:
129570784-129570784

A

C

intergenic

De novo

-

Turner2016 G

HS6ST1

2-0306-003

chr2:
129303746-129303746

A

T

intergenic

De novo

-

Yuen2016 G

HS6ST1

13324.p1

chr2:
129454724-129454724

A

C

intergenic

De novo

-

Turner2016 G

HS6ST1

12011.p1

chr2:
129570782-129570782

T

C

intergenic

De novo

-

Turner2016 G

HS6ST1

2-1646-003

chr2:
129103029-129103029

C

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

1-0006-004

chr2:
129456332-129456332

T

C

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU057503

chr2:
129025771-129025771

C

T

exonic

De novo

nonsynonymous SNV

NM_004807

c.G1201A

p.E401K

24.8

-

Yuen2017 G

HS6ST1

PN400477

chr2:
129075939-129075939

T

A

exonic

Unknown

stopgain

NM_004807

c.A199T

p.K67X

37.0

0.0183

Leblond2019 E

HS6ST1

1-0233-004

chr2:
129540539-129540546

AGTCCTGG

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

2-1265-003

chr2:
129232310-129232310

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HS6ST1

2-0307-003

chr2:
129033969-129033969

C

T

intronic

De novo

-

Yuen2017 G

HS6ST1

1-0299-004

chr2:
129475686-129475714

ATTTGGTTGTTAATGATCTCTTTCTGTGT

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU047904

chr2:
129527618-129527618

G

A

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU024105

chr2:
129057950-129057950

G

A

intronic

De novo

-

Yuen2017 G

HS6ST1

1-0274-003

chr2:
129394313-129394313

G

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU024105

chr2:
129245340-129245340

G

C

intergenic

De novo

-

Yuen2017 G

HS6ST1

2-1518-003

chr2:
129259844-129259844

T

C

intergenic

De novo

-

Yuen2017 G

HS6ST1

PN400493

chr2:
129075939-129075939

T

A

exonic

Unknown

stopgain

NM_004807

c.A199T

p.K67X

37.0

0.0183

Leblond2019 E

HS6ST1

1-0121-003

chr2:
129064854-129064854

G

A

intronic

De novo

-

Yuen2017 G

HS6ST1

2-1364-003

chr2:
129254460-129254460

G

C

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU017703

chr2:
129102691-129102691

C

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

PN400587

chr2:
129075939-129075939

T

A

exonic

Unknown

stopgain

NM_004807

c.A199T

p.K67X

37.0

0.0183

Leblond2019 E

HS6ST1

1-0465-003a

chr2:
129098837-129098837

G

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

2-1322-003

chr2:
129195805-129195805

G

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU3506302

chr2:
129193981-129193981

C

G

intergenic

De novo

-

Yuen2017 G

HS6ST1

1-0368-004

chr2:
129193990-129193990

C

T

intergenic

De novo

-

Yuen2017 G

HS6ST1

AU3809302

chr2:
129585151-129585151

C

T

intergenic

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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