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Variant (rsID / SNP)

rs182355403

TACO1

rs182355403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TACO1. Location: chromosome 17, position 61,685,210. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TACO1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:61685210
Cytoband
17q23.3
HGVS
NM_016360.4(TACO1):c.742T>G (p.Ser248Ala)
Allele change
Missense_S248A

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease

Public references

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