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.

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Curation:
Currentness:

(See the latest version)

SSFA2 G647D

(SSFA2 Gly647Asp)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:12am 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

  • 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
 

Added in this revision:

 

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

 

NA12156

 

NA12878

 

NA18517

 

snp-28

 

snp-30

 

snp-31

 

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":

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