PRODH W185Q - 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:

PRODH W185Q

(PRODH Trp185Gln)


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

  • TG @ chr22:17292676: 11.1% (14/126) in GET-Evidence
  • Frequency shown in summary reports: 11.1% (14/126)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CG @ chr22:18912677

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom TG @ chr22:18912677

 

GS18502 - var-GS18502-1100-36-ASM
hom TG @ chr22:17292677

 

GS19704 - var-GS19704-1100-36-ASM
hom TG @ chr22:17292677

 

Other external references
 

    dbSNP
  • rs11913840
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs4819756
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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