HAS3 R173H - GET-Evidence

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

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HAS3 R173H

(HAS3 Arg173His)

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

  • A @ chr16:69143816: 1.8% (199/10758) in EVS
  • A @ chr16:67701316: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (199/10758)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr16:69143816


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr16:69143816


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr16:69143816


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr16:69143816


GS06985 - var-GS06985-1100-36-ASM
het A @ chr16:67701317


Other external references

  • rs2232229
    Web search results (6 hits -- see all)
  • HAS3 Gene - GeneCards | HAS3 Protein | HAS3 Antibody
    EntrezGene summary for HAS3: The protein encoded by this gene is involved in the ... HAS3 Gene in genomic location: bands according to Ensembl, locations according ...
  • Hyaluronan synthase 3 - Homo sapiens (Human)
    HAS3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... R H: dbSNP rs2232229. VAR_049317. Experimental info. Sequence conflict. 493. 1. G E in ...
  • UniProt: HAS3_HUMAN
    AC O00219; A8K5T5; Q9NYP0; DT 30-MAY-2000, integrated into UniProtKB ... acid synthase 3; DE Short=HA synthase 3; GN Name=HAS3; OS Homo sapiens (Human) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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