SSFA2 G647D - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

SSFA2 G647D

(SSFA2 Gly647Asp)


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

  • A @ chr2:182780307: 5.7% (613/10758) in EVS
  • A @ chr2:182488551: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 5.7% (613/10758)

Publications
 

Genomes
 

 

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr2:182488552

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr2:182488552

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr2:182488552

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr2:182488552

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr2:182488552

 

NA12878

 

Other external references
 

    dbSNP
  • rs75716247
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in