Variant (rsID / SNP)

rs142954643

rs142954643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PUS1. Location: chromosome 12, position 132,416,780. 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: 12:132416780
Cytoband: 12q24.33
HGVS: NM_025215.6(PUS1):c.364C>A (p.Arg122=)
Allele change: Synonymous_R94R

Associated conditions / phenotypes

Myopathy, lactic acidosis, and sideroblastic anemia 1|Sideroblastic anemia|Inborn mitochondrial myopathy

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.