RNF39 S203P - 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:

RNF39 S203P

(RNF39 Ser203Pro)


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

  • G @ chr6:30041009: 17.6% (1327/7524) in EVS
  • G @ chr6:30148987: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 17.6% (1327/7524)

Publications
 

Fellay J, Shianna KV, Ge D, Colombo S, Ledergerber B, Weale M, Zhang K, Gumbs C, Castagna A, Cossarizza A, Cozzi-Lepri A, De Luca A, Easterbrook P, Francioli P, Mallal S, Martinez-Picado J, Miro JM, Obel N, Smith JP, Wyniger J, Descombes P, Antonarakis SE, Letvin NL, McMichael AJ, Haynes BF, Telenti A, Goldstein DB. A whole-genome association study of major determinants for host control of HIV-1. Science. 2007 Aug 17;317(5840):944-7. Epub 2007 Jul 19. PubMed PMID: 17641165; PubMed Central PMCID: PMC1991296.

 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr6:30041009

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr6:30041009

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr6:30041009

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:30041009

 

 

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr6:30148988

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr6:30148988

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr6:30148988

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr6:30148988

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr6:30148988

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr6:30148988

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr6:30148988

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr6:30148988

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr6:30148988

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr6:30148988

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr6:30148988

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr6:30148988

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr6:30148988

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chr6:30148988

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr6:30148988

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr6:30148988

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr6:30148988

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr6:30148988

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr6:30148988

 

Other external references
 

    dbSNP
  • rs2074479
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [HIV; HIV Infections]
    This variant is associated with low HIV viral load and disease progression.
    www.ncbi.nlm.nih.gov/pubmed/17641165

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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