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The ARSB D520N (c.
1558G > A) has no evidence of association with disease and it is recommend breeders discontinue testing for this variant, unless in combination with the L476 variant.
Testing for D520N should be considered in heterozygous L476P cats, however, the L476P variant itself is extremely rare in the general cat population and should not be tested unless a MPS disease is suspected.
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Associated Breed(s):
Click here to view Associated Breeds
Category:
Genetic Diseases
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Gene:
ARSB
Variant Detected:
Base Substitution G>A
Mode of Inheritance:
Recomended Screening:
Research Citation(s):