Variant Results

or

or

Results for "NR0B1"

Variant Events: 12

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

NR0B1

AU4067303

chrX:
30442537-30442537

C

T

intergenic

De novo

-

-

Yuen2017 G

NR0B1

1-0552-003

chrX:
30405758-30405758

T

G

intergenic

De novo

-

-

Yuen2017 G

NR0B1

1-0923-003

chrX:
30414889-30414889

T

A

intergenic

De novo

-

-

Yuen2017 G

NR0B1

AU2089302

chrX:
30490309-30490309

G

A

intergenic

De novo

-

-

Yuen2017 G

NR0B1

09C99821

chrX:
30327222-30327222

C

A

exonic

De novo

nonsynonymous SNV

NM_000475

c.G259T

p.A87S

16.21

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NR0B1

AU1848302

chrX:
30498481-30498481

A

G

intergenic

De novo

-

-

Yuen2017 G

NR0B1

1-0661-003

chrX:
30351854-30351865

CATATATATATA

CATATATATATATA

intergenic

De novo

-

-

Yuen2017 G

NR0B1

AU2215302

chrX:
30564891-30564891

C

T

intergenic

De novo

-

-

Yuen2017 G

NR0B1

2-1266-003

chrX:
30327222-30327222

C

A

exonic

De novo

nonsynonymous SNV

NM_000475

c.G259T

p.A87S

16.21

-

Jiang2013 G
Yuen2017 G
Zhou2022 GE

NR0B1

AU4410302

chrX:
30521773-30521773

G

C

intergenic

De novo

-

-

Yuen2017 G

NR0B1

5-0106-003

chrX:
30558212-30558249

GAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAG

GAGAAGAAGAAGGAAGAAGAAGAAG

intergenic

De novo

-

-

Yuen2017 G

NR0B1

AU2137304

chrX:
30490455-30490476

AAAAAAAAAAACAAAAAAAAAA

AAAAAAAAAAA

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
	More