Variant (rsID / SNP)

rs137854429

rs137854429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TK2. Location: chromosome 16, position 66,565,297. Clinical significance in the table: Pathogenic.

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Reference-table entries

TK2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:66565297
Cytoband: 16q21
HGVS: NM_004614.5(TK2):c.361C>A (p.His121Asn)
Allele change: Missense_H96N

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome, myopathic form

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.