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Variant (rsID / SNP)

rs188802138

TYMP

rs188802138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYMP. Location: chromosome 22, position 50,967,020. 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
22:50967020
Cytoband
22q13.33
HGVS
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
Allele change
Missense_R146H

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 1|Mitochondrial neurogastrointestinal encephalomyopathy

Public references

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