SPTA1 A970D - 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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SPTA1 A970D

(SPTA1 Ala970Asp)


You are viewing an old version of this page that was saved on January 13, 2010 at 9:21am by Abraham Rosenbaum.

Edited in this revision:

Short summary

This variant is reported as to being seen frequently in individuals with recessive Hereditary pyropoikilocytosis.

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr1:158624528: 3.7% (370/9916) in EVS
  • T @ chr1:156891151: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.7% (370/9916)

Publications
 

Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood. 2005 Dec 15;106(13):4367-9. Epub 2005 Sep 8. PubMed PMID: 16150946; PubMed Central PMCID: PMC1895230.

 

Genomes
 

snp-18

 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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