ART1 R102H - GET-Evidence

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

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ART1 R102H

(ART1 Arg102His)

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

  • A @ chr11:3681054: 1.1% (123/10758) in EVS
  • A @ chr11:3637629: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (123/10758)



GS12004 - var-GS12004-1100-36-ASM
het A @ chr11:3637630


GS18940 - var-GS18940-1100-36-ASM
het A @ chr11:3637630


GS18956 - var-GS18956-1100-36-ASM
het A @ chr11:3637630


Other external references

  • rs2280133
    Web search results (4 hits -- see all)
  • HMDB00902.txt
    Green plants obtain ATP through photosynthesis, while other organisms ... ( wikipedia) A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to ...
  • ART1 Gene - GeneCards | NAR1 Protein | NAR1 Antibody
    EntrezGene summary for ART1: ADP-ribosyltransferase catalyzes the ADP-ribosylation of ... ART1 Gene in genomic location: bands according to Ensembl, locations ...
  • HMDB01406.txt
    Its primary significance is in the prevention and/or cure of blacktongue and PELLAGRA. ... rs11028846; rs2271583; rs2280133; rs11028811; rs7123313; rs11028783; ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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