HMMR R333H - GET-Evidence

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

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Curation:
Currentness:

HMMR R333H

(HMMR Arg333His)


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

Publications
 

Genomes
 

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
 

    dbSNP
  • rs2303078
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=HMMR
  • 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 ...
    www.uniprot.org/uniprot/O75330
  • 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 ...
    lyle.smu.edu/cse/snapper/snapper/cgi-bin/...?qid=1677327256

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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