OVGP1 D332E - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(OVGP1 Asp332Glu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr1:111962256: 4.1% (441/10758) in EVS
  • T @ chr1:111763778: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (441/10758)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr1:111962256


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr1:111962256


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr1:111962256



huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr1:111962256


GS06985 - var-GS06985-1100-36-ASM
het T @ chr1:111763779


GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:111763779


GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:111763779


GS18558 - var-GS18558-1100-36-ASM
het T @ chr1:111763779


GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:111763779


Other external references

  • rs17027633
  • Score: 0.997 (probably damaging)
    Web search results (5 hits -- see all)
  • OVGP1 Gene - GeneCards | OVGP1 Protein | OVGP1 Antibody
    EntrezGene summary for OVGP1: This gene encodes a large, carbohydrate-rich, epithelial ... OVGP1 Gene in genomic location: bands according to Ensembl, locations ...
  • Oviduct-specific glycoprotein precursor - Homo sapiens (Human)
    OVGP1. Synonyms: MUC9, OGP. Organism. Homo sapiens (Human) [Complete ... D E: dbSNP rs17027633. VAR_049199. Natural variant. 477. 1. M T: dbSNP rs2485319. Ref.2 ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: OVGP1 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • UniProt: Q12889
    DT 01-NOV-1997, sequence version 1. DT 20-APR-2010, entry version 84. ... GeneCards; GC01M111758; -. DR H-InvDB; HIX0028672; -. DR HGNC; HGNC:8524; OVGP1. ...

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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