HSD17B4 W511R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

HSD17B4 W511R

(HSD17B4 Trp511Arg)


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 @ chr5:118860938: 15.4% (1653/10754) in EVS
  • C @ chr5:118888836: 20.3% (26/128) in GET-Evidence
  • Frequency shown in summary reports: 15.4% (1653/10754)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr5:118860938

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr5:118860938

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr5:118860938

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr5:118860938

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr5:118860938

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr5:118888837

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr5:118888837

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr5:118888837

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr5:118888837

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr5:118888837

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr5:118888837

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr5:118888837

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr5:118888837

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr5:118888837

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr5:118888837

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr5:118888837

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr5:118888837

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr5:118888837

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr5:118888837

 

Other external references
 

    dbSNP
  • rs11539471
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.984 (probably damaging)
    Web search results (11 hits -- see all)
  • Association Between Single-Nucleotide Polymorphisms in ...
    ... the SRD5A2, CYP19A1, HSB17B1, and HSD17B4 genes, encoding components of the hormone ... a previously unstudied SNP in the 3′ end of this gene (W511R; rs17145454) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2666187/?tool=pubmed
  • Moroccan Human Mutation Database
    D-Bifunctional Protein Deficiency; HSD17B4. Gene. HSD17B4. OMIM Number ... Published AA change. W511R. Proper Nomenclature. p.Trp511Arg. Number of chromosomes. 2 ...
    www.sante.gov.ma/Departements/INH/MoHuMuDa/search/D1.htm
  • Association Between Single-Nucleotide Polymorphisms in ...
    CYP19A1, HSB17B1, and HSD17B4) and DNA repair. XRCC2, XRCC3, BRCA2, and RAD52) using two ... and HSD17B4 in ovarian cancer. We have examined SNPs in some of these ...
    aocstudy.org/docs/Publications/Beesley J - Cancer Epi Bio...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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