NR5A1 G146A - GET-Evidence

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

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NR5A1 G146A

(NR5A1 Gly146Ala)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary


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.)

Inheritance pattern


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)



Added in this revision:



Other external references

  • 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
  • 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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