Variant (rsID / SNP)

rs35461276

rs35461276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PUS1. Location: chromosome 12, position 132,426,489. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PUS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:132426489
Cytoband: 12q24.33
HGVS: NM_025215.6(PUS1):c.1197C>T (p.Phe399=)
Allele change: Synonymous_F371F

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.