Variant (rsID / SNP)

rs11479

rs11479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCO2, TYMP. Location: chromosome 22, position 50,964,236. Clinical significance in the table: Benign.

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Reference-table entries

SCO2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:50964236
Cytoband: 22q13.33
HGVS: NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
Allele change: Silent

Associated conditions / phenotypes

Fatal Infantile Cardioencephalomyopathy|Mitochondrial DNA depletion syndrome 1|Spinal muscular atrophy

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.