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Variant (rsID / SNP)

rs201441662

PUS1

rs201441662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PUS1. Location: chromosome 12, position 132,428,113. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PUS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:132428113
Cytoband
12q24.33
HGVS
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
Allele change
Synonymous_G394G

Associated conditions / phenotypes

Myopathy, lactic acidosis, and sideroblastic anemia 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.