Variant (rsID / SNP)

rs121913041

rs121913041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYMP. Location: chromosome 22, position 50,966,058. Clinical significance in the table: Pathogenic.

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Reference-table entries

TYMPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:50966058
Cytoband: 22q13.33
HGVS: NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)
Allele change: Missense_R202T

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 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.