Variant Results

or

Results for "HRNR"

Variant Events: 23

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

HRNR

1-0043-003

chr1:
152199305-152199305

G

A

intergenic

De novo

-

Yuen2017 G

HRNR

2-1322-004

chr1:
152228315-152228315

C

T

intergenic

De novo

-

Yuen2017 G

HRNR

AU4186302

chr1:
152186685-152186685

C

T

exonic

De novo

nonsynonymous SNV

NM_001009931

c.G7420A

p.G2474S

8.071

-

Yuen2017 G

HRNR

12212.p1

chr1:
152187191-152187191

T

A

exonic

De novo

nonsynonymous SNV

NM_001009931

c.A6914T

p.H2305L

6.052

-

Krumm2015 E

HRNR

7-0148-003

chr1:
152233237-152233237

T

A

intergenic

De novo

-

Yuen2017 G

HRNR

SP0031814

chr1:
152193340-152193340

A

G

exonic

De novo

synonymous SNV

NM_001009931

c.T765C

p.S255S

-

4.118E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HRNR

1-0490-003

chr1:
152186686-152186686

G

A

exonic

De novo

synonymous SNV

NM_001009931

c.C7419T

p.Y2473Y

-

Yuen2017 G

HRNR

SP0033688

chr1:
152188565-152188565

T

C

exonic

De novo

nonsynonymous SNV

NM_001009931

c.A5540G

p.Q1847R

2.153

1.0E-4

Fu2022 E

HRNR

SP0056894

chr1:
152185701-152185701

C

T

exonic

De novo

nonsynonymous SNV

NM_001009931

c.G8404A

p.G2802R

4.937

4.12E-5

Fu2022 E

HRNR

Lim2017:11880

chr1:
152187069-152187069

A

T

exonic

De novo

nonsynonymous SNV

NM_001009931

c.T7036A

p.S2346T

7.2

2.0E-4

Lim2017 E

HRNR

SP0031814

chr1:
152193205-152193205

C

A

exonic

De novo

synonymous SNV

NM_001009931

c.G900T

p.G300G

-

2.471E-5

Trost2022 G
Zhou2022 GE

HRNR

NP053

chr1:
152187658-152187658

G

A

exonic

De novo

synonymous SNV

NM_001009931

c.C6447T

p.H2149H

-

2.0E-4

Lim2017 E

HRNR

13143.p2

chr1:
152192746-152192746

G

A

exonic

synonymous SNV

NM_001009931

c.C1359T

p.G453G

-

1.647E-5

Zhou2022 GE

HRNR

ASP070

chr1:
152188491-152188491

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001009931

c.G5614A

p.G1872S

9.104

2.0E-4

Lim2017 E

HRNR

2-1195-003

chr1:
152196663-152196663

T

G

UTR5

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

HRNR

PN400256

chr1:
152185824-152185824

G

A

exonic

Inherited

stopgain

NM_001009931

c.C8281T

p.R2761X

47.0

0.0025

Leblond2019 E

HRNR

089-05-102822

chr1:
152190790-152190790

A

G

exonic

De novo

synonymous SNV

NM_001009931

c.T3315C

p.H1105H

-

1.973E-5

Fu2022 E

HRNR

13143.p1

chr1:
152192746-152192746

G

A

exonic

synonymous SNV

NM_001009931

c.C1359T

p.G453G

-

1.647E-5

Zhou2022 GE

HRNR

PN400104

chr1:
152185824-152185824

G

A

exonic

Inherited

stopgain

NM_001009931

c.C8281T

p.R2761X

47.0

0.0025

Leblond2019 E

HRNR

2-1131-003

chr1:
152252580-152252580

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

HRNR

2-1422-003

chr1:
152191168-152191168

C

T

exonic

De novo

synonymous SNV

NM_001009931

c.G2937A

p.S979S

-

4.0E-4

Trost2022 G
Yuen2017 G

HRNR

AU3302302

chr1:
152187404-152187404

G

C

exonic

De novo

nonsynonymous SNV

NM_001009931

c.C6701G

p.S2234C

6.226

-

Yuen2017 G

HRNR

1-0263-003

chr1:
152259713-152259713

G

A

intergenic

De novo

-

Yuen2016 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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