MMS19 V526I - 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:

MMS19 V526I

(MMS19 Val526Ile)


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 @ chr10:99225846: 4.1% (438/10756) in EVS
  • T @ chr10:99215835: 8.9% (11/124) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (438/10756)

Publications
 

Genomes
 

GS18517 - var-GS18517-1100-36-ASM
hom T @ chr10:99215836

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr10:99215836

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr10:99215836

 

GS19704 - var-GS19704-1100-36-ASM
hom T @ chr10:99215836

 

Other external references
 

    dbSNP
  • rs17112809
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (7 hits -- see all)
  • MMS19 Gene - GeneCards | MMS19 Protein | MMS19 Antibody
    MMS19 nucleotide excision repair homolog (S. cerevisiae)1 2 ... MMS19 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19
  • MMS19 nucleotide excision repair protein homolog - Homo ...
    MMS19-like protein. MET18 homolog. Gene names. Name: MMS19. Synonyms: MMS19L. Organism. Homo ... MMS19 genes and functional complementation of a yeast mms19 deletion ...
    www.uniprot.org/uniprot/Q96T76
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17112809*V526I. rs17112895. rs17113157*S527R. rs17113412*E73G ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • .:: repairsnps ::.
    Name: MMS19-like (MET18 homolog, S. cerevisiae) Category: Nucleotide excision repair (NER) ... last update aug 29 2007 by sigve nakken | css by SmallPark ...
    dna.uio.no/repairSNP/getsnps.php?gene=MMS19L
  • UniProt: Q96T76
    ... entry version 72. DE RecName: Full=MMS19 nucleotide excision repair protein homolog; DE ... mouse MMS19 genes and functional RT complementation of a yeast mms19 deletion mutant. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q96T76

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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