ALPL V522A - 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:

ALPL V522A

(ALPL Val522Ala)


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

  • C @ chr1:21904131: 7.5% (795/10628) in EVS
  • C @ chr1:21776717: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 7.5% (795/10628)

Publications
 

Genomes
 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr1:21904131

 

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr1:21776718

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr1:21776718

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr1:21776718

 

Other external references
 

    dbSNP
  • rs34605986
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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