CDSN M18L - 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:

CDSN M18L

(CDSN Met18Leu)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr6:31088145: 18.8% (2020/10730) in EVS
  • A @ chr6:31196123: 11.1% (12/108) in GET-Evidence
  • Frequency shown in summary reports: 18.8% (2020/10730)

Publications
 

de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet. 2006 Oct;38(10):1166-72. Epub 2006 Sep 24. PubMed PMID: 16998491; PubMed Central PMCID: PMC2670196.

 

Genomes
 

 

 

 

 

 

 

 

 

 

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:31196124

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr6:31196124

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr6:31196124

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr6:31196124

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr6:31196124

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr6:31196124

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr6:31196124

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr6:31196124

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr6:31196124

 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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