NR5A1 G146A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

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NR5A1 G146A

(NR5A1 Gly146Ala)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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
 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr9:127262802

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr9:126302623

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr9:126302623

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr9:126302623

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr9:126302623

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr9:126302623

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr9:126302623

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr9:126302623

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr9:126302623

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr9:126302623

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr9:126302623

 

Added in this revision:

GS18947 - var-GS18947-1100-36-ASM
het G @ chr9:126302623

 

NA18507

 

NA18517

 

NA18956

 

NA19240

 

snp-28

 

snp-30

 

snp-31

 

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)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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