HSD17B4 W511R - GET-Evidence

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

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HSD17B4 W511R

(HSD17B4 Trp511Arg)

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs11539471
  • 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) ...
  • 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 ...
  • 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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