Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139223629

TYMP

rs139223629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYMP. Location: chromosome 22, position 50,965,624. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TYMPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:50965624
Cytoband
22q13.33
HGVS
NM_001953.5(TYMP):c.735G>A (p.Gln245=)
Allele change
Synonymous_Q245Q

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.