Variant (rsID / SNP)

rs201908893

rs201908893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PUS1. Location: chromosome 12, position 132,426,186. 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: 12:132426186
Cytoband: 12q24.33
HGVS: NM_025215.6(PUS1):c.894C>T (p.Val298=)
Allele change: Synonymous_V270V

Associated conditions / phenotypes

Myopathy, lactic acidosis, and sideroblastic anemia 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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