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Variant (rsID / SNP)

rs121913039

TYMP

rs121913039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYMP. Location: chromosome 22, position 50,966,041. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TYMPPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:50966041
Cytoband
22q13.33
HGVS
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
Allele change
Missense_V208M

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 1

Public references

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