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Variant (rsID / SNP)

rs202059921

PUS1

rs202059921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PUS1. Location: chromosome 12, position 132,426,312. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PUS1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:132426312
Cytoband
12q24.33
HGVS
NM_025215.6(PUS1):c.1020C>T (p.Phe340=)
Allele change
Synonymous_F312F

Associated conditions / phenotypes

Myopathy, lactic acidosis, and sideroblastic anemia 1|Myopathy, lactic acidosis, and sideroblastic anemia

Public references

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