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Results for "NR5A2"

Variant Events: 22

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     2-1384-003chr1:
200143800-200143800
TCUTR3De novo--Yuen2017 G
NR5A2     AU005213chr1:
200266305-200266305
AGintergenicDe novo--Yuen2017 G
NR5A2     2-1452-003chr1:
200169568-200169568
CGintergenicDe novo--Yuen2017 G
NR5A2     1-0531-003chr1:
200159845-200159845
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NR5A2     2-1731-003chr1:
200241422-200241422
AGintergenicDe novo--Yuen2017 G
NR5A2     1-0075-003chr1:
200206372-200206372
AGintergenicDe novo--Yuen2017 G
NR5A2     AU3811301chr1:
200085177-200085177
TAintronicDe novo--Yuen2017 G
NR5A2     14482.p1chr1:
200238113-200238113
TGintergenicDe novo--Turner2016 G
NR5A2     2-1323-003chr1:
200189151-200189163
AATAGTGCTAATTAintergenicDe novo--Yuen2016 G
NR5A2     10C108596chr1:
200017391-200017391
CTexonicDe novosynonymous SNVNM_001276464
NM_003822
NM_205860
c.C339T
c.C417T
c.C555T
p.L113L
p.L139L
p.L185L
8.781-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
NR5A2     12680.p1chr1:
200030541-200030541
GAintronicDe novo--Turner2016 G
NR5A2     2-1592-003chr1:
200206958-200206958
AGintergenicDe novo--Yuen2017 G
NR5A2     5-0004-003chr1:
200189964-200189964
GAintergenicDe novo--Yuen2017 G
NR5A2     AU2029303chr1:
200255357-200255357
CGintergenicDe novo--Yuen2017 G
NR5A2     2-1461-003chr1:
200257757-200257757
TCintergenicDe novo--Yuen2017 G
NR5A2     AU4273304chr1:
200210370-200210370
TTATAintergenicDe novo--Yuen2017 G
NR5A2     5097_childchr1:
200017391-200017391
CTexonicDe novosynonymous SNVNM_001276464
NM_003822
NM_205860
c.C339T
c.C417T
c.C555T
p.L113L
p.L139L
p.L185L
8.781-Neale2012 E
NR5A2     1-0269-003chr1:
200297299-200297299
CTintergenicDe novo--Yuen2017 G
NR5A2     AU2951303chr1:
200218956-200218956
CTintergenicDe novo--Yuen2017 G
NR5A2     AU2951302chr1:
200218956-200218956
CTintergenicDe novo--Yuen2017 G
NR5A2     1-0161-004chr1:
200110405-200110406
CTCintronicDe novo--Yuen2017 G
NR5A2     AU2029302chr1:
200255357-200255357
CGintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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