DMXL1 M1589V - 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:

DMXL1 M1589V

(DMXL1 Met1589Val)


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

  • G @ chr5:118500264: 1.5% (158/10756) in EVS
  • G @ chr5:118528162: 2.4% (3/124) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (158/10756)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr5:118500264

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr5:118500264

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr5:118500264

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr5:118500264

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr5:118500264

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr5:118528163

 

Other external references
 

    dbSNP
  • rs116379331
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.984 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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