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Curation:

Currentness:

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NR5A1 G146A

(NR5A1 Gly146Ala)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

G @ chr9:127262802: 24.6% (2605/10574) in EVS
G @ chr9:126302622: 34.4% (44/128) in GET-Evidence
Frequency shown in summary reports: 24.6% (2605/10574)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs1110061
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the NR5A1 gene
46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dys
NR5A1-Related 46,XY DSD and 46,XY CGD
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NR5A1

PolyPhen-2

Score: 0 (benign)

Web search results (37 hits -- see all)

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1 ...
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes ... The p.G146A change is a recognized nonsynonymous polymorphism in SF1 ...
www.ncbi.nlm.nih.gov/pmc/articles/PMC2359628
A novel mutation in the accessory DNA-binding domain of human ...
Objective: Steroidogenic factor 1 (SF1), ofﬁcially designated NR5A1, is a nuclear receptor that. plays key ... p.G146A polymorphism and a novel missense mutation (p.R84C) in the ...
www.eje-online.org/cgi/reprint/157/2/233.pdf
Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in ...
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that ... One additional patient ([c.424_427dupCCCA]+[p.G146A]) displayed a more marked phenotype of severe gonadal ...
eprints.ucl.ac.uk/8260
NEJM -- Mutations in NR5A1 Associated with Ovarian Insufficiency
Original Article from The New England Journal of Medicine -- Mutations in NR5A1 Associated with Ovarian Insufficiency
nejm.highwire.org/cgi/content/full/360/12/1200
Steroidogenic Factor-1 (SF-1, Ad4BP, NR5A1) and Disorders of ...
Initial efforts to identify NR5A1 changes in humans focused on 46,XY ... A common non-synonymous polymorphism in NR5A1 (p.G146A) has also been shown to have ...
www.ncbi.nlm.nih.gov/pmc/articles/PMC2645687
Steroidogenic Factor-1 <i>(SF-1, Ad4BP, NR5A1)</i> and ...
Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice ... A common non-synonymous polymorphism in NR5A1 (p.G146A) has also been shown to have ...
content.karger.com/ProdukteDB/produkte.asp?...
The Sf1-related nuclear hormone receptor Hr39 regulates ...
BioInfoBank Library :: The Sf1-related nuclear hormone receptor Hr39 regulates Drosophila female reproductive tract development and function. A double-switch system ...
lib.bioinfo.pl/pmid:18077584
A novel mutation in the accessory DNA-binding domain of human ...
Objective: Steroidogenic factor 1 (SF1), officially designated NR5A1, is a nuclear receptor that plays key ... compound heterozygosity of the p.G146A polymorphism and a novel p. ...
www.eje-online.org/cgi/content/abstract/157/2/233
Medline ® Abstract for Reference of 'Unusual causes of ...
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that ... One additional patient ([c.424_427dupCCCA]+[p.G146A]) displayed a more marked phenotype of severe gonadal ...
uptodate.com/patients/content/abstract.do?topicKey=~AA1I/...
Mutations in NR5A1 Associated with Ovarian Insufficiency
tation of NR5A1 causes 46,XY disorders of sex development, with or ... ment and function, we sequenced NR5A1 in four families with histories of both ...
content.nejm.org/cgi/reprint/NEJMoa0806228.pdf

Other in silico analyses

NBLOSUM100 score = 1
GET-Evidence autoscore = 3

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NR5A1 G146A - GET-Evidence