ASPM L3132R - 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:

ASPM L3132R

(ASPM Leu3132Arg)


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 @ chr1:197061086: 3.6% (384/10758) in EVS
  • C @ chr1:195327708: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (384/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr1:197061086

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr1:197061086

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr1:197061086

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr1:197061086

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr1:197061086

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr1:195327709

 

Other external references
 

    dbSNP
  • rs36004306
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ASPM gene
    Primary Autosomal Recessive Microcephaly
    Primary Autosomal Recessive Microcephaly Type 5
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASPM

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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