Variant (rsID / SNP)

rs369574115

rs369574115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYMP. Location: chromosome 22, position 50,966,937. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TYMPConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:50966937
Cytoband: 22q13.33
HGVS: NM_001953.5(TYMP):c.516+4C>T
Allele change: Silent

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.