Variant Results

or

Results for "NR5A2"

Variant Events: 38

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

NR5A2

2-1384-003

chr1:
200143800-200143800

T

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

NR5A2

MSSNG00012-003

chr1:
200125258-200125258

C

CT

intronic

De novo

-

Trost2022 G

NR5A2

2-1452-003

chr1:
200169568-200169568

C

G

intergenic

De novo

-

Yuen2017 G

NR5A2

AU2221301

chr1:
200120673-200120673

G

GT

intronic

De novo

-

Trost2022 G

NR5A2

1-0531-003

chr1:
200159845-200159845

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NR5A2

1-0075-003

chr1:
200206372-200206372

A

G

intergenic

De novo

-

Yuen2017 G

NR5A2

AU3811301

chr1:
200085177-200085177

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NR5A2

2-1323-003

chr1:
200189151-200189163

AATAGTGCTAATT

A

intergenic

De novo

-

Yuen2016 G

NR5A2

10C108596

chr1:
200017391-200017391

C

T

exonic

De novo

synonymous SNV

NM_001276464
NM_003822
NM_205860

c.C339T
c.C417T
c.C555T

p.L113L
p.L139L
p.L185L

8.781

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NR5A2

2-1592-003

chr1:
200206958-200206958

A

G

intergenic

De novo

-

Yuen2017 G

NR5A2

AU2029303

chr1:
200255357-200255357

C

G

intergenic

De novo

-

Yuen2017 G

NR5A2

AU4273304

chr1:
200210370-200210370

T

TATA

intergenic

De novo

-

Yuen2017 G

NR5A2

SP0045812

chr1:
200017301-200017301

T

G

exonic

De novo

synonymous SNV

NM_001276464
NM_003822
NM_205860

c.T249G
c.T327G
c.T465G

p.A83A
p.A109A
p.A155A

9.248

-

Fu2022 E

NR5A2

1-0269-003

chr1:
200297299-200297299

C

T

intergenic

De novo

-

Yuen2017 G

NR5A2

AU005213

chr1:
200266305-200266305

A

G

intergenic

De novo

-

Yuen2017 G

NR5A2

2-1731-003

chr1:
200241422-200241422

A

G

intergenic

De novo

-

Yuen2017 G

NR5A2

14482.p1

chr1:
200238113-200238113

T

G

intergenic

De novo

-

Turner2016 G

NR5A2

12680.p1

chr1:
200030541-200030541

G

A

intronic

De novo

-

Turner2016 G

NR5A2

5-0018-003

chr1:
200038470-200038470

C

G

intronic

De novo

-

Trost2022 G

NR5A2

1-0287-003

chr1:
200025214-200025214

T

C

intronic

De novo

-

Trost2022 G

NR5A2

5-0018-003

chr1:
200038481-200038483

TGA

CGG

intronic

De novo

-

Trost2022 G

NR5A2

5-0004-003

chr1:
200189964-200189964

G

A

intergenic

De novo

-

Yuen2017 G

NR5A2

5-0018-003

chr1:
200038475-200038475

A

G

intronic

De novo

-

Trost2022 G

NR5A2

2-1461-003

chr1:
200257757-200257757

T

C

intergenic

De novo

-

Yuen2017 G

NR5A2

AU2310301

chr1:
200021627-200021627

T

A

intronic

De novo

-

Trost2022 G

NR5A2

5097_child

chr1:
200017391-200017391

C

T

exonic

De novo

synonymous SNV

NM_001276464
NM_003822
NM_205860

c.C339T
c.C417T
c.C555T

p.L113L
p.L139L
p.L185L

8.781

-

Neale2012 E

NR5A2

SP0040392

chr1:
200080463-200080463

C

A

intronic

De novo

-

1.083E-5

Trost2022 G

NR5A2

REACH000368

chr1:
200080294-200080295

GT

G

intronic

De novo

-

8.589E-5

Trost2022 G

NR5A2

2-1733-003

chr1:
200112159-200112162

AAAA

TATGCT

intronic

De novo

-

Trost2022 G

NR5A2

3-0005-000

chr1:
200093415-200093415

C

T

intronic

De novo

-

Trost2022 G

NR5A2

AU2951303

chr1:
200218956-200218956

C

T

intergenic

De novo

-

Yuen2017 G

NR5A2

5-0018-003

chr1:
200038492-200038492

A

C

intronic

De novo

-

Trost2022 G

NR5A2

AU2951302

chr1:
200218956-200218956

C

T

intergenic

De novo

-

Yuen2017 G

NR5A2

5-0018-003

chr1:
200038489-200038489

A

T

intronic

De novo

-

Trost2022 G

NR5A2

1-0161-004

chr1:
200110405-200110406

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NR5A2

AU2029302

chr1:
200255357-200255357

C

G

intergenic

De novo

-

Yuen2017 G

NR5A2

3-0143-001

chr1:
200079641-200079641

C

A

intronic

De novo

-

Trost2022 G

NR5A2

1-1034-003

chr1:
200075369-200075369

T

C

intronic

De novo

-

Trost2022 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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