Variant (rsID / SNP)

rs372620403

rs372620403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYMP, SCO2. Location: chromosome 22, position 50,964,196. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TYMPConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:50964196
Cytoband: 22q13.33
HGVS: NM_001953.5(TYMP):c.*3C>T
Allele change: Silent

Associated conditions / phenotypes

Fatal Infantile Cardioencephalomyopathy|Cytochrome-c oxidase deficiency disease|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.