PDHX R24G - 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:

PDHX R24G

(PDHX Arg24Gly)


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 @ chr11:34938272: 2.3% (251/10758) in EVS
  • G @ chr11:34894847: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 2.3% (251/10758)

Publications
 

Genomes
 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr11:34938272

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr11:34938272

 

Other external references
 

    dbSNP
  • rs11539201
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.055 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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