HAS3 R173H - 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:

HAS3 R173H

(HAS3 Arg173His)


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

  • 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs2232229
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=HAS3
  • 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 ...
    www.uniprot.org/uniprot/O00219
  • 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) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:HAS3_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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