OVGP1 M479V - 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:

OVGP1 M479V

(OVGP1 Met479Val)


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 @ chr1:111957688: 8.6% (921/10758) in EVS
  • C @ chr1:111759210: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 8.6% (921/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr1:111957688

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr1:111957688

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr1:111957688

 

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr1:111957688

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr1:111759211

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr1:111759211

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:111759211

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr1:111759211

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr1:111759211

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:111759211

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:111759211

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr1:111759211

 

Other external references
 

    dbSNP
  • rs3767607
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.963 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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