MMS19 V526I - GET-Evidence

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

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MMS19 V526I

(MMS19 Val526Ile)

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 @ 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)



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

  • rs17112809
  • 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 ...
  • 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 ...
  • 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 ...
  • .:: repairsnps ::.
    Name: MMS19-like (MET18 homolog, S. cerevisiae) Category: Nucleotide excision repair (NER) ... last update aug 29 2007 by sigve nakken | css by SmallPark ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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