Variant (rsID / SNP)

rs17549732

rs17549732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TACO1. Location: chromosome 17, position 61,683,783. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TACO1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:61683783
Cytoband: 17q23.3
HGVS: NM_016360.4(TACO1):c.498T>C (p.His166=)
Allele change: Synonymous_H166H

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease

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.