NDOR1 R30G - 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:

NDOR1 R30G

(NDOR1 Arg30Gly)


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 @ chr9:140100317: 10.7% (1116/10436) in EVS
  • G @ chr9:139220137: 4.5% (4/88) in GET-Evidence
  • Frequency shown in summary reports: 10.7% (1116/10436)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr9:140100317

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr9:140100317

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr9:140100317

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom G @ chr9:140100317

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr9:140100317

 

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr9:140100317

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr9:139220138

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr9:139220138

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr9:139220138

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr9:139220138

 

Other external references
 

    dbSNP
  • rs113809617
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.894 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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