OVGP1 D332E - 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 D332E

(OVGP1 Asp332Glu)


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

  • 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs17027633
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=OVGP1
  • 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 ...
    www.uniprot.org/uniprot/Q12889
  • 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 ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=OVGP1&geneid=5016
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q12889

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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