MUT R532H - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

MUT R532H

(MUT Arg532His)


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

  • T @ chr6:49412433: 31.3% (3364/10758) in EVS
  • T @ chr6:49520391: 21.7% (26/120) in GET-Evidence
  • Frequency shown in summary reports: 31.3% (3364/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr6:49412433

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr6:49412433

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr6:49412433

 

 

 

 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr6:49412433

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr6:49412433

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr6:49412433

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr6:49520392

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr6:49520392

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr6:49520392

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr6:49520392

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr6:49520392

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr6:49520392

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr6:49520392

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr6:49520392

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr6:49520392

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr6:49520392

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr6:49520392

 

GS20509 - var-GS20509-1100-36-ASM
hom T @ chr6:49520392

 

NA12878

 

Other external references
 

    dbSNP
  • rs1141321
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... group E rs9469203*A11T rs9473558*R532H rs9486039*M127I rs9488991*N627H rs9493627 ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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