NR5A1 G146A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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NR5A1 G146A

(NR5A1 Gly146Ala)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

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
 

NA18517

 

NA18956

 

Added in this revision:

NA19240

 

Other external references
 

    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)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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