CUBN G1840S - 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:

CUBN G1840S

(CUBN Gly1840Ser)


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

  • T @ chr10:16982061: 5.7% (616/10758) in EVS
  • T @ chr10:17022066: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 5.7% (616/10758)

Publications
 

Genomes
 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr10:16982061

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr10:16982061

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr10:17022067

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr10:17022067

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr10:17022067

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr10:17022067

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr10:17022067

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr10:17022067

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr10:17022067

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr10:17022067

 

Other external references
 

    dbSNP
  • rs2271462
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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