NDUFA10 A2G - 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.

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Curation:
Currentness:

NDUFA10 A2G

(NDUFA10 Ala2Gly)


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

  • C @ chr2:240964714: 8.6% (620/7232) in EVS
  • Frequency shown in summary reports: 8.6% (620/7232)

Publications
 

Genomes
 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr2:240964714

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr2:240964714

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr2:240964714

 

Other external references
 

    dbSNP
  • rs11541494
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.97 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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