HMMR R333H - GET-Evidence

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

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(HMMR Arg333His)

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 @ chr5:162901156: 3.8% (407/10754) in EVS
  • Frequency shown in summary reports: 3.8% (407/10754)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr5:162901156


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr5:162901156


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr5:162901156


hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr5:162901156


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr5:162901156


Other external references

  • rs2303078
    Web search results (4 hits -- see all)
  • HMMR Gene - GeneCards | HMMR Protein | HMMR Antibody
    When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, ... HMMR Gene in genomic location: bands according to Ensembl, locations according ...
  • Hyaluronan mediated motility receptor - Homo sapiens (Human)
    When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including the ... R H: dbSNP rs2303078. VAR_024156. Natural variant. 368. 1. V A: dbSNP ...
  • SNP Analysis from UTSW
    HMMR. Description. Date. 06/26/06. Logfile. log.txt. Download. results.txt. Alignment. Human ... rs2303078. 100. H/R. 100. 69.6969696969697. 143.478260869565. 1139. 1139. T. T ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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